Publications

Below you will find all the published and preprint scientific papers using FinnGen data.

2022

May

Genetic effects on the timing of parturition and links to fetal birth weight

Preprint

Pol Solé-Navais, Christopher Flatley, Valgerdur Steinthorsdottir, Marc Vaudel, Jing Chen, Triin Laisk, Abigail L. LaBella, David Westergaard, Jonas Bacelis, Julius Juodakis, Ben Brumpton, Line Skotte, Maria C. Borges, Øyvind Helgeland, Anubha Mahajan, Matthias Wielscher, Frederick Lin, Catherine Briggs, Carol A. Wang, Gunn-Helen Moen, Robin N. Beaumont, Jonathan P. Bradfield, Gudmar Thorleifsson, Maiken E. Gabrielsen, Sisse R. Ostrowski, Dominika Modzelewska, Estonian Biobank Research Team, Ellen A. Nohr, Elina Hypponen, Amit Srivastava, Octavious Talbot, Catherine Allard, Scott M. Williams, Ramkumar Menon, Beverley M. Shields, Gardar Sveinbjornsson, Huan Xu, Danish Blood Donor Study Genomic Consortium, Early Growth Genetics Consortium, Mads Melbye, Lowe William Jr, Luigi Bouchard, Emily Oken, Ole B. Pedersen, Daniel F. Gudbjartsson, Christian Erikstrup, Erik Sørensen, Rolv T. Lie, Kari Teramo, Mikko Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Andrew T. Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise Scholtens, Christine Power, Jane West, Mette Nyegaard, John A. Capra, Anne H. Skogholt, Per Magnus, Ole A. Andreassen, Unnur Thorsteinsdottir, Struan F. Grant, Elisabeth Qvigstad, Craig E. Pennell, Marie-France Hivert, Geoffrey M. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah A. Lawlor, Henriette S. Nielsen, Reedik Mägi, Antonis Rokas, Kristian Hveem, Kari Stefansson, Bjarke Feenstra, Pål Njolstad, Louis J. Muglia, Rachel M. Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson

medRxiv 2022.05.04.22274624; doi: https://doi.org/10.1101/2022.05.04.22274624

 

Iron homeostasis governs erythroid phenotype in Polycythemia Vera

Preprint

Cavan Bennett, Victoria E Jackson, Anne Pettikiriarachchi, Thomas Hayman, Ute Schaeper, Gemma Moir-Meyer, Katherine Fielding, Ricardo Ataide, Danielle Clucas, Andrew Baldi, Alexandra L Garnham, Connie SN Li-Wai-Suen, Warren S Alexander, Melanie Bahlo, Kate Burbury, Ashley P Ng, Sant-Rayn Pasricha

bioRxiv 2022.05.03.490556; doi: https://doi.org/10.1101/2022.05.03.490556

 

Differentiating Associations of Glycemic Traits with Atherosclerotic and Thrombotic Outcomes: Mendelian Randomization Investigation

Yuan S, Mason AM, Burgess S, Larsson SC.

Diabetes. 2022 May 2:db210905. doi: 10.2337/db21-0905.

 

April

Iron status and risk of sepsis: a Mendelian randomisation analysis

Preprint

Fergus Hamilton, Ruth Mitchell, Haroon Ahmed, Peter Ghazal, Nic Timpson

medRxiv 2022.04.29.22274435; doi: https://doi.org/10.1101/2022.04.29.22274435

 

Using genotyping and whole-exome sequencing data to improve genetic risk prediction in deep venous thrombosis

Preprint

Valeria Lo Faro, Therese Johansson, Julia Höglund, Fatemeh Hadizadeh, Åsa Johansson

medRxiv 2022.04.24.22274229; doi: https://doi.org/10.1101/2022.04.24.22274229

 

Using Mendelian randomisation to identify opportunities for type 2 diabetes prevention by repurposing medications used for lipid management

Nikhil K. Khankari, Jacob M. Keaton, Venexia M. Walker, Kyung Min Lee, Megan M. Shuey, Shoa L. Clarke, Kent R. Heberer, Donald R. Miller, Peter D. Reaven, Julie A. Lynch, Marijana Vujkovic, Todd L. Edwards

eBioMedicine, Volume 80, 2022, 104038. https://doi.org/10.1016/j.ebiom.2022.104038

 

Elevated Lipoprotein(a) and Risk of Atrial Fibrillation: An Observational and Mendelian Randomization Study

Mohammadi-Shemirani P, Chong M, Narula S, Perrot N, Conen D, Roberts JD, Thériault S, Bossé Y, Lanktree MB, Pigeyre M, Paré G.

J Am Coll Cardiol. 2022 Apr 26;79(16):1579-1590. doi: 10.1016/j.jacc.2022.02.018.

 

Causal Association of Type 2 Diabetes Mellitus and Glycemic Traits With Cardiovascular Diseases and Lipid Traits: A Mendelian Randomization Study

Huang Mingkai, Laina-Nicaise Loum-Davadi, Zha Lingfeng, Tang Tingting, Cheng Xiang

Frontiers in Endocrinology, 22 April 2022, https://doi.org/10.3389/fendo.2022.840579

 

The impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: A Mendelian randomization study

Preprint

Maria Carolina Borges, Phillip Haycock, Jie Zheng, Gibran Hemani, Laurence J Howe, A Floriaan Schmidt, James R Staley, R Thomas Lumbers, Albert Henry, Rozenn N Lemaitre, Tom R Gaunt, Michael V Holmes, George Davey Smith, Aroon D Hingorani, Deborah A Lawlor

medRxiv 2022.04.17.22269308; doi: https://doi.org/10.1101/2022.04.17.22269308

 

Varicose Veins and Risk of Venous Thromboembolic Diseases: A Two-Sample-Based Mendelian Randomization Study

Li R, Chen Z, Gui L, Wu Z, Miao Y, Gao Q, Diao Y, Li Y.

Front Cardiovasc Med. 2022 Apr 14;9:849027. doi: 10.3389/fcvm.2022.849027.

 

Genome-wide risk prediction of common diseases across ancestries in one million people

Nina Mars, Sini Kerminen, Yen-Chen A. Feng, Masahiro Kanai, Kristi Läll, Laurent F. Thomas, Anne Heidi Skogholt, Pietro della Briotta Parolo, Benjamin M. Neale, Jordan W. Smoller, Maiken E. Gabrielsen, Kristian Hveem, Reedik Mägi, Koichi Matsuda, Yukinori Okada, Matti Pirinen, Aarno Palotie, Andrea Ganna, Alicia R. Martin, Samuli Ripatti

Cell Genomics, Vol 2, Issue 4, 2022. https://doi.org/10.1016/j.xgen.2022.100118

 

Higher genetically predicted low-density lipoprotein levels increase the renal cancer risk independent of triglycerides and high-density lipoprotein levels: a Mendelian randomization study.

Ma Y, Jian Z, Xiang L, Jin X.

Int J Cancer. 2022 Apr 16. doi: 10.1002/ijc.34032.

 

Re-contacting biobank participants: lessons from a pilot study within FinnGen

Preprint

Rodosthenis S. Rodosthenous, Mari E.K. Niemi, Lila Kallio, Merja Perälä, Perttu Terho, Theresa Knopp, Eero Punkka, Enni M. Makkonen, Paula Nurmi, Johanna Mäkelä, Pauli Wihuri, Marco Hautalahti, Corianna Moffatt, Paolo Martini, Laura Germine, Viola A. Mäkelä, Oona A. Karhunen, Jari Lahti, Tero S. Hiekkalinna, Tero Jyrhämä, Huei-Yi Shen, FinnGen, Heiko Runz, Aarno Palotie, Markus Perola, Andrea Ganna

medRxiv 2022.04.07.22273501; doi: https://doi.org/10.1101/2022.04.07.22273501

 

An atlas of genetic correlations between gestational age and common psychiatric disorders

Yao Y, Li C, Meng P, Cheng B, Cheng S, Liu L, Yang X, Jia Y, Wen Y, Zhang F.

Autism Res. 2022 Apr 6. doi: 10.1002/aur.2719.

 

New insights into the genetic etiology of Alzheimer's disease and related dementias

Bellenguez C, Küçükali F, Jansen IE et al.

Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4.

 

Appraising the effect of potential risk factors on thyroid cancer: A Mendelian randomization study

Huang L, Feng X, Yang W, Li X, Zhang K, Feng S, Wang F, Yang X.

J Clin Endocrinol Metab. 2022 Apr 2:dgac196. doi: 10.1210/clinem/dgac196. 

 

Control of pancreatic islet function and glucose homeostasis by a novel microexon program misregulated in type 2 diabetes

Preprint

Jonàs Juan-Mateu, Simon Bajew, Marta Miret, Luis P. Íñiguez, Amaya López, Sophie Bonnal, Goutham Atla, Sílvia Bonàs-Guarch, Jorge Ferrer, Juan Valcárcel, Manuel Irimia

bioRxiv 2022.04.02.486809; doi: https://doi.org/10.1101/2022.04.02.486809

 

March

Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores

Preprint

Florian Privé, Julyan Arbel, Hugues Aschard, Bjarni J. Vilhjálmsson

bioRxiv 2021.03.29.437510; doi: https://doi.org/10.1101/2021.03.29.437510

 

Genetically Predicted Atrial Fibrillation and Valvular Heart Disease: A Two-Sample Mendelian Randomization Study

Gao J, Bai Y, Ji H.

Front Cardiovasc Med. 2022 Mar 28;9:845734. doi: 10.3389/fcvm.2022.845734. eCollection 2022.

 

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

Yin X, Chan LS, Bose D, Jackson AU, VandeHaar P, Locke AE, Fuchsberger C, Stringham HM, Welch R, Yu K, Fernandes Silva L, Service SK, Zhang D, Hector EC, Young E, Ganel L, Das I, Abel H, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Wagner GR; FinnGen, Kang J, Morrison J, Burant CF, Collins FS, Ripatti S, Palotie A, Freimer NB, Mohlke KL, Scott LJ, Wen X, Fauman EB, Laakso M, Boehnke M.

Nat Commun. 2022 Mar 28;13(1):1644. doi: 10.1038/s41467-022-29143-5.

 

Assessing the causal role of epigenetic clocks in the development of multiple cancers: a Mendelian randomization study

Morales Berstein F, McCartney DL, Lu AT, Tsilidis KK, Bouras E, Haycock PC, Burrows K, Phipps AI, Buchanan DD, Cheng I; PRACTICAL Consortium, Martin RM, Davey Smith G, Relton CL, Horvath S, Marioni RE, Richardson TG, Richmond RC.

Elife. 2022 Mar 29;11:e75374. doi: 10.7554/eLife.75374. 

 

Causal association between chronic kidney disease and risk of 19 site-specific cancers: A Mendelian randomization study

Tang L, Li C, Chen W, Zeng Y, Yang H, Hu Y, Song H, Zeng X, Li Q, Fu P.

Cancer Epidemiol Biomarkers Prev. 2022 Mar 25:cebp.1318.2021. doi: 10.1158/1055-9965.EPI-21-1318. 

 

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

Skuladottir AT, Bjornsdottir G, Ferkingstad E, Einarsson G, Stefansdottir L, Nawaz MS, Oddsson A, Olafsdottir TA, Saevarsdottir S, Walters GB, Magnusson SH, Bjornsdottir A, Sveinsson OA, Vikingsson A, Hansen TF, Jacobsen RL, Erikstrup C, Schwinn M, Brunak S, Banasik K, Ostrowski SR, Troelsen A, Henkel C, Pedersen OB; DBDS Genetic Consortium, Jonsdottir I, Gudbjartsson DF, Sulem P, Thorgeirsson TE, Stefansson H, Stefansson K.

Nat Commun. 2022 Mar 24;13(1):1598. doi: 10.1038/s41467-022-29133-7.

 

Vegetable intake and cardiovascular risk: genetic evidence from Mendelian randomization

Preprint

Qi Feng, Andrew J. Grant, Qian Yang, Stephen Burgess, Jelena Bešević, Megan Conroy, Wemimo Omiyale, Yangbo Sun, Naomi Allen, Ben Lacey

medRxiv 2022.03.21.22272719; doi: https://doi.org/10.1101/2022.03.21.22272719

 

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

Preprint

Masahiro Kanai, Roy Elzur, Wei Zhou, Global Biobank Meta-analysis Initiative, Mark J Daly, Hilary K Finucane

medRxiv 2022.03.16.22272457; doi: https://doi.org/10.1101/2022.03.16.22272457

 

Alcohol, Coffee, and Milk Intake in Relation to Epilepsy Risk

Zhang Z, Wang M, Yuan S, Liu X.

Nutrients. 2022 Mar 9;14(6):1153. doi: 10.3390/nu14061153. 

 

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

Preprint

Florian Thibord, Derek Klarin, Jennifer A. Brody, Ming-Huei Chen, Michael G. Levin, Daniel I. Chasman, Ellen L. Goode, Kristian Hveem, Maris Teder-Laving, Angel Martinez-Perez, Dylan Aïssi, Delphine Daian-Bacq, Kaoru Ito, Pradeep Natarajan, Pamela L. Lutsey, Girish N. Nadkarni, Gabriel Cuellar-Partida, Brooke N. Wolford, Jack W. Pattee, Charles Kooperberg, Sigrid K. Braekkan, Ruifang Li-Gao, Noemie Saut, Corriene Sept, Marine Germain, Renae L. Judy, Kerri L. Wiggins, Darae Ko, Christopher O’Donnell, Kent D. Taylor, Franco Giulianini, Mariza De Andrade, Therese H. Nøst, Anne Boland, Jean-Philippe Empana, Satoshi Koyama, Thomas Gilliland, Ron Do, Xin Wang, Wei Zhou, Jose Manuel Soria, Juan Carlos Souto, Nathan Pankratz, Jeffery Haessler, Kristian Hindberg, Frits R. Rosendaal, Constance Turman, Robert Olaso, Rachel L. Kember, Traci M. Bartz, Julie A. Lynch, Susan R. Heckbert, Sebastian M. Armasu, Ben Brumpton, David M. Smadja, Xavier Jouven, Issei Komuro, Katharine Clapham, Ruth J.F. Loos, Cristen Willer, Maria Sabater-Lleal, James S. Pankow, Alexander P. Reiner, Vania M. Morelli, Paul M. Ridker, Astrid van Hylckama Vlieg, Jean-François Deleuze, Peter Kraft, Daniel J. Rader, Barbara McKnight, Global Biobank Meta-Analysis Initiative, Estonian Biobank Research Team, 23andMe Research Team, Kyung Min Lee, Bruce M. Psaty, Anne Heidi Skogholt, Joseph Emmerich, Pierre Suchon, Biobank Japan, Stephen S. Rich, Ha My T. Vy, Weihong Tang, Rebecca D. Jackson, John-Bjarne Hansen, Pierre-Emmanuel Morange, Christopher Kabrhel, David-Alexandre Trégouët, Scott Damrauer, Andrew D. Johnson, Nicholas L. Smith

medRxiv 2022.03.04.22271003; doi: https://doi.org/10.1101/2022.03.04.22271003

 

FinnGen: Unique genetic insights from combining isolated population and national health register data

Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson, Kati Donner, Mary P. Reeve, Hannele Laivuori, Mervi Aavikko, Mari A. Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O. Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G. Elnahas, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A. Dada, Zhihao Ding, Margaret G. Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R. Graham, Eric Green, Antti Hakanen, Marco Hautalahti, Åsa Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto M. Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V. Mozaffari, Mari EK. Niemi, Marianna Niemi, Teemu Niiranen, Christopher J. O’Donnell, Ma’en Obeidat, George Okafo, Hanna M. Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S. Paul, Margit Pelkonen, Rion K. Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A. Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae H. Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A. Turunen, Jacob C. Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S. Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J. Daly, Aarno Palotie

medRxiv 2022.03.03.22271360; doi: https://doi.org/10.1101/2022.03.03.22271360

 

Mendelian Randomization Analysis Suggests No Associations of Herpes Simplex Virus Infections With Multiple Sclerosis

Zhang W, Wu P, Yin R, Sun M, Zhang R, Liao X, Lin Y, Lu H.

Front Neurosci. 2022 Mar 1;16:817067. doi: 10.3389/fnins.2022.817067.

 

The major genetic risk factor for severe COVID-19 is associated with protection against HIV

Zeberg H.

Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2116435119. doi: 10.1073/pnas.2116435119

 

Multi-trait genome-wide association study identifies new loci associated with sleep apnoea risk

Preprint

Adrian I. Campos, Nathan Ingold, Yunru Huang, Brittany L. Mitchell, Pik-Fang Kho, Xikun Han, Luis M. García-Marín, Jue-Sheng Ong, 23andMe Research Team, Matthew H. Law, Jennifer S. Yokoyama, Nicholas G. Martin, Xianjun Dong, Gabriel Cuellar-Partida, Stuart MacGregor, Stella Aslibekyan, Miguel E. Rentería

medRxiv 2020.09.29.20199893; doi: https://doi.org/10.1101/2020.09.29.20199893

 

February

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

Preprint

Ida Surakka, Kuan-Han H Wu, Whitney E Hornsby, Brooke Wolford, Fred Shen, Wei Zhou, Jennifer E Huffman, Anita Pandit, Yao Hu, Ben Brumpton, Anne Heidi Skogholt, Maiken E Gabrielsen, Robin Walters, The TOPMed Stroke Working Group, Million Veteran Program (MVP), Kristian Hveem, Charles Kooperberg, Sebastian Zollner, Peter W.F. Wilson, Nadia R Sutton, Mark Daly, Benjamin Neale, Cristen J Willer, Global Biobank Meta-analysis Initiative (GBMI)

medRxiv 2022.02.28.22271647; doi: https://doi.org/10.1101/2022.02.28.22271647

 

Association of smoking, lung function and COPD in COVID-19 risk: a two-step Mendelian randomization study

Au Yeung SL, Li AM, He B, Kwok KO, Schooling CM.

Addiction. 2022 Feb 27. doi: 10.1111/add.15852.

 

HLA-disease association and pleiotropy landscape in over 235,000 Finns

Jarmo Ritari, Satu Koskela, Kati Hyvärinen, FinnGen, Jukka Partanen

Human Immunology. Feb 24;S0198-8859(22)00035-0. Vol 83, Issue 5, May 2022, Pages 391-398. https://doi.org/10.1016/j.humimm.2022.02.003

 

Genetic associations of protein-coding variants in human disease

Sun BB, Kurki MI, Foley CN, Mechakra A, Chen CY, Marshall E, Wilk JB; Biogen Biobank Team, Chahine M, Chevalier P, Christé G; FinnGen, Palotie A, Daly MJ, Runz H.

Nature. 2022 Feb 23. doi: 10.1038/s41586-022-04394-w.

 

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Tamlander M, Mars N, Pirinen M; FinnGen, Widén E, Ripatti S.

Commun Biol. 2022 Feb 23;5(1):158. doi: 10.1038/s42003-021-02996-0

 

Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

Häkkinen K, Kiiski JI, Lähteenvuo M, Jukuri T, Suokas K, Niemi-Pynttäri J, Kieseppä T, Männynsalo T, Wegelius A, Haaki W, Lahdensuo K, Kajanne R, Kaunisto MA, Tuulio-Henriksson A, Kampman O, Hietala J, Veijola J, Lönnqvist J, Isometsä E, Paunio T, Suvisaari J, Kalso E, Niemi M, Tiihonen J, Daly M, Palotie A, Ahola-Olli AV.

Pharmacogenomics J. 2022 Feb 23. doi: 10.1038/s41397-022-00270-y. 

 

Multi-ancestry Genome-wide Association Study of Varicose Veins Reveals Polygenic Architecture, Genetic Overlap with Arterial and Venous Disease, and Novel Therapeutic Opportunities

Preprint

Michael G. Levin, Jennifer E. Huffman, Anurag Verma, Kyle A. Sullivan, Alexis A. Rodriguez, David Kainer, Michael R Garvin, Matthew J. Lane, Hyejung Won, Binglan Li, Yuan Luo, Gail P. Jarvik, Hakon Hakonarson, Elizabeth A. Jasper, Alexander G Bick, Marylyn D Ritchie, Daniel A Jacobson, Ravi K. Madduri, Scott M. Damrauer, VA Million Veteran Program

medRxiv 2022.02.22.22271350; doi: https://doi.org/10.1101/2022.02.22.22271350

 

The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α

Preprint

Vikash Chandra, Hazem Ibrahim, Clémentine Halliez, Rashmi Prasad, Federica Vecchio, Om Prakash Dwivedi, Jouni Kvist, Diego Balboa, Jonna Saarimäki-Vire, Hossam Montaser, Tom Barsby, Väinö Lithovius, Isabella Artner, Swetha Gopalakrishnan, Leif Groop, Roberto Mallone, Decio L. Eizirik, Timo Otonkoski

bioRxiv 2022.02.22.481272; doi: https://doi.org/10.1101/2022.02.22.481272

 

Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder

Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R.

Mol Psychiatry. 2022 Feb 18. doi: 10.1038/s41380-022-01469-y.

 

Immune system and blood-brain barrier-wide biomarker analyses provide causal evidence for autoimmunity in dementia

Preprint

Joni V. Lindbohm, Nina Mars, Pyry N. Sipilä, Archana Singh-Manoux, Heiko Runz, FinnGen, Gill Livingston, Sudha Seshadri, Ramnik Xavier, Aroon D. Hingorani, Samuli Ripatti, Mika Kivimäki

medRxiv 2022.02.17.22271136; doi: https://doi.org/10.1101/2022.02.17.22271136

 

The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections

Preprint

Jones SE, Maisha FI, Strausz SJ, Cade BE, Tervi AM, Helaakoski V, Broberg ME, Lammi V; FinnGen, Lane JM, Redline S, Saxena R, Ollila HM.

medRxiv: doi: 10.1101/2022.02.16.22271055

 

NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Nuottamo ME, Häppölä P, Artto V, Hautakangas H, Pirinen M, Hiekkalinna T, Ellonen P, Lepistö M, Hämäläinen E; International Headache Genetics Consortium (IHGC), FinnGenConsortium, Siren A, Lehesjoki AE, Kallela M, Palotie A, Kaunisto MA, Wessman M.

Cephalalgia. 2022 Feb 15:3331024211068065. doi: 10.1177/03331024211068065.

 

Low Intelligence Predicts Higher Risks of Coronary Artery Disease and Myocardial Infarction: Evidence From Mendelian Randomization Study

Yang F, Hu T, Chen S, Wang K, Qu Z, Cui H.

Front Genet. 2022 Feb 7;13:756901. doi: 10.3389/fgene.2022.756901

 

Both general- and central- obesity are causally associated with polycystic ovarian syndrome: Findings of a Mendelian randomization study

Preprint

Kushan De Silva, Ryan T. Demmer, Daniel Jönsson, Aya Mousa, Helena Teede, Andrew Forbes, Joanne Enticott

medRxiv 2022.02.07.22270650; doi: https://doi.org/10.1101/2022.02.07.22270650

 

Research Letter: Genetically determined blood pressure traits are associated with increased risk of aortic dissection: a Mendelian randomization study

Preprint

Jiawei Zhou, Jianfeng Lin, Yuehong Zheng

medRxiv 2022.02.06.22270435; doi: https://doi.org/10.1101/2022.02.06.22270435

 

Smoking behavior might affect allergic rhinitis and vasomotor rhinitis differently: A mendelian randomization appraisal

Wang S, Qi L, Wei H, Jiang F, Yan A.

World Allergy Organ J. 2022 Feb 5;15(2):100630. doi: 10.1016/j.waojou.2022.100630.

 

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort, Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M.

Nat Genet. 2022 Feb;54(2):152-160. doi: 10.1038/s41588-021-00990-0. Epub 2022 Feb 3. 

 

Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis

Yarmolinsky J, Díez-Obrero V, Richardson TG, Pigeyre M, Sjaarda J, Paré G, Walker VM, Vincent EE, Tan VY, Obón-Santacana M, Albanes D, Hampe J, Gsur A, Hampel H, Pai RK, Jenkins M, Gallinger S, Casey G, Zheng W, Amos CI; International Lung Cancer Consortium; PRACTICAL consortium; MEGASTROKE consortium, Smith GD, Martin RM, Moreno V.

PLoS Med. 2022 Feb 3;19(2):e1003897. doi: 10.1371/journal.pmed.1003897

 

Obesity and risk of female reproductive conditions: A Mendelian randomisation study

Venkatesh SS, Ferreira T, Benonisdottir S, Rahmioglu N, Becker CM, Granne I, Zondervan KT, Holmes MV, Lindgren CM, Wittemans LBL.

PLoS Med. 2022 Feb 1;19(2):e1003679. doi: 10.1371/journal.pmed.1003679. 

 

Alcohol, coffee consumption, and smoking in relation to migraine: a bidirectional Mendelian randomization study

Yuan S, Daghlas I, Larsson SC.

Pain. 2022 Feb 1;163(2):e342-e348. doi: 10.1097/j.pain.0000000000002360

 

January

Assessment of causal direction between thyroid function and cardiometabolic health: a Mendelian randomization study

Wang JJ, Zhuang ZH, Yu CQ, Wang WY, Wang WX, Zhang K, Meng XB, Gao J, Tian J, Zheng JL, Yang J, Huang T, Shao CL, Tang YD.

J Geriatr Cardiol. 2022 Jan 28;19(1):61-70. doi: 10.11909/j.issn.1671-5411.2022.01.004. 

 

Large Registry Based Analysis of Genetic Predisposition to Tuberculosis Identifies Genetic Risk Factors at HLA

Preprint

Anniina Tervi, Nella Junna, Martin Broberg, Samuel E. Jones, FinnGen, Satu Strausz, Hanna-Riikka Kreivi, Caroline A. Heckman, Hanna M. Ollila

medRxiv 2022.01.27.22269951; doi: https://doi.org/10.1101/2022.01.27.22269951

 

Novel Association of Lyme disease, Age, and Atopic Dermatitis

Preprint

Brandon T. Lee, Sarah D. Galloway, Satu Strausz, Maia Shoham, Paige Hansen, Laughing Bear Torrez Dulgeroff, Grace Blacker, Ying Y. Yiu, Paul Mansfield, Finn Gen, Atif Saleem, Eric Gars, Erin C. Sanders, Irving L. Weissman, Hanna M. Ollila, Michal Caspi Tal

bioRxiv 2022.01.27.476641; doi: https://doi.org/10.1101/2022.01.27.476641

 

Genetic risk factors have a substantial impact on healthy life years

Preprint

Sakari Jukarainen, Tuomo Kiiskinen, Aki S. Havulinna, Juha Karjalainen, Mattia Cordioli, Joel T. Rämö, Nina Mars, FinnGen, Kaitlin E. Samocha, Hanna M. Ollila, Matti Pirinen, Andrea Ganna

medRxiv 2022.01.25.22269831; doi: https://doi.org/10.1101/2022.01.25.22269831

 

Sex-specific effect of serum urate levels on coronary heart disease and myocardial infarction prevention: A Mendelian randomization study

Yang F, Lu Y, Chen S, Wang K, Hu T, Cui H

Nutr Metab Cardiovasc Dis. 2022 Jan 22:S0939-4753(22)00039-4. doi: 10.1016/j.numecd.2022.01.022

 

Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging

Paul R. H. J. Timmers, Evgeny S. Tiys, Saori Sakaue, Masato Akiyama, Tuomo T. J. Kiiskinen, Wei Zhou, Shih-Jen Hwang, Chen Yao, The Biobank Japan Project, FinnGen Study, Joris Deelen, Daniel Levy, Andrea Ganna, Yoichiro Kamatani, Yukinori Okada, Peter K. Joshi, James F. Wilson, Yakov A. Tsepilov

Nat Aging 2, 19–30 (2022). https://doi.org/10.1038/s43587-021-00159-8

 

Investigating causal relations between sleep duration and risks of adverse pregnancy and perinatal outcomes: Linear and nonlinear Mendelian randomization analyses in up to 356,069 European women

Preprint

Qian Yang, Maria C Magnus, Fanny Kilpi, Gillian Santorelli, Ana Goncalves Soares, Jane West, Per Magnus, John Wright, Siri Eldevik Haberg, Eleanor Sanderson, Deborah A Lawlor, Kate Tilling, Maria Carolina Borges

medRxiv 2022.01.19.21267648; doi: https://doi.org/10.1101/2022.01.19.21267648

 

Interleukins and rheumatoid arthritis: bi-directional Mendelian randomization investigation

Yuan S, Li X, Lin A, Larsson SC.

Semin Arthritis Rheum. 2022 Jan 14;53:151958. doi: 10.1016/j.semarthrit.2022.151958.

 

Educational attainment could be a protective factor against obstructive sleep apnea: a study based on Mendelian randomization

Song L, Li H, Wang J, Xie J, Chen G, Liang T, Wang Y, Ye L, Wang X, Kuang X, Ren M, Ye J, Tang Y, Ji K, Liao W, Zhang X.

J Thorac Dis. 2022 Jan;14(1):210-215. doi: 10.21037/jtd-21-945.

 

GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

Chong M, Mohammadi-Shemirani P, Perrot N, Nelson W, Morton R, Narula S, Lali R, Khan I, Khan M, Judge C, Machipisa T, Cawte N, O'Donnell M, Pigeyre M, Akhabir L, Paré G.

Elife. 2022 Jan 13;11:e70382. doi: 10.7554/eLife.70382

 

Causal Association Between Periodontitis and Type 2 Diabetes: A Bidirectional Two-Sample Mendelian Randomization Analysis

Wang YB, Yan SY, Li XH, Huang Q, Luo LS, Wang YY, Huang J, Jin YH, Zeng XT

Front Genet. 2022 Jan 10;12:792396. doi: 10.3389/fgene.2021.792396 

 

Metabolic and lifestyle factors in relation to senile cataract: a Mendelian randomization study

Yuan S, Wolk A, Larsson SC.

Sci Rep. 2022 Jan 10;12(1):409. doi: 10.1038/s41598-021-04515-x. 

 

Genomic and transcriptomic data analyses highlight KPNB1 and MYL4 as novel risk genes for congenital heart disease

Preprint

Martin Broberg, Minna Ampuja, Samuel Jones, Tiina Ojala, Otto Rahkonen, Riikka Kivelä, James Priest, FinnGen, Hanna M. Ollila, Emmi Helle

medRxiv 2022.01.07.22268881; doi: https://doi.org/10.1101/2022.01.07.22268881

 

KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population

Ritari J, Hyvärinen K, Partanen J, Koskela S.

PeerJ. 2022 Jan 7;10:e12692. doi: 10.7717/peerj.12692.

 

Polygenic Risk Scores for Predicting Adverse Outcomes After Coronary Revascularization

Aittokallio J, Kauko A, Vaura F, Salomaa V, Kiviniemi T; FinnGen, Schnabel RB, Niiranen T.

Am J Cardiol. 2022 Jan 5:S0002-9149(21)01193-0. doi: 10.1016/j.amjcard.2021.11.046. 

 

2021

December

Leveraging global multi-ancestry meta-analysis in the study of Idiopathic Pulmonary Fibrosis genetics

Preprint

Juulia J. Partanen, Paavo Häppölä, Wei Zhou, Arto Aleksanteri Lehisto, Mari Ainola, Eva Sutinen, Richard J Allen, Amy D Stockwell, Justin M Oldham, Beatriz Guillen-Guio, Carlos Flores, Imre Noth, Brian L Yaspan, R. Gisli Jenkins, Louise V Wain, Samuli Ripatti, Matti Pirinen, Global Biobank Meta-analysis Initiative (GBMI), Riitta Kaarteenaho, Marjukka Myllärniemi, Mark J Daly, Jukka T. Koskela

medRxiv 2021.12.29.21268310; doi: https://doi.org/10.1101/2021.12.29.21268310

 

The rs429358 Locus in Apolipoprotein E Is Associated With Hepatocellular Carcinoma in Patients With Cirrhosis

Innes H, Nischalke HD, Guha IN, Weiss KH, Irving W, Gotthardt D, Barnes E, Fischer J, Ansari MA, Rosendahl J, Lin SK, Marot A, Pedergnana V, Casper M, Benselin J, Lammert F, McLauchlan J, Lutz PL, Hamill V, Mueller S, Morling JR, Semmler G, Eyer F, von Felden J, Link A, Vogel A, Marquardt JU, Sulk S, Trebicka J, Valenti L, Datz C, Reiberger T, Schafmayer C, Berg T, Deltenre P, Hampe J, Stickel F, Buch S.

Hepatol Commun. 2021 Dec 27. doi: 10.1002/hep4.1886.

 

APOE ε4 associates with increased risk of severe COVID-19, cerebral microhaemorrhages and post-COVID mental fatigue: a Finnish biobank, autopsy and clinical study

Kurki SN, Kantonen J, Kaivola K, Hokkanen L, Mäyränpää MI, Puttonen H; FinnGen, Martola J, Pöyhönen M, Kero M, Tuimala J, Carpén O, Kantele A, Vapalahti O, Tiainen M, Tienari PJ, Kaila K, Hästbacka J, Myllykangas L.

Acta Neuropathol Commun. 2021 Dec 23;9(1):199. doi: 10.1186/s40478-021-01302-7. 

 

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

Preprint

Valeria Lo Faro, Arjun Bhattacharya, Wei Zhou, Dan Zhou, Ying Wang, Kristi Läll, Masahiro Kanai, Esteban Lopera-Maya, Peter Straub, Priyanka Pawar, Ran Tao, Xue Zhong, Shinichi Namba, the Global Biobank Meta-analysis Initiative, Serena Sanna, Ilja M. Nolte, Yukinori Okada, Nathan Ingold, Stuart MacGregor, Harold Snieder, Ida Surakka, Cristen Willer, Alicia R. Martin, Milam A. Brantley Jr., Eric R. Gamazon, Nomdo M. Jansonius, Karen Joos, Nancy J. Cox, Jibril Hirbo

medRxiv 2021.12.16.21267891; doi: https://doi.org/10.1101/2021.12.16.21267891

 

Selenium and cancer risk: wide-angled Mendelian randomization analysis

Yuan S, Mason AM, Carter P, Vithayathil M, Kar S, Burgess S, Larsson SC.

Int J Cancer. 2021 Dec 15. doi: 10.1002/ijc.33902.

 

Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies

Larsson SC, Burgess S.

BMC Med. 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. 

 

Recessive Genome-wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes

O'Connor MJ, Schroeder P, Huerta-Chagoya A, Cortés-Sánchez P, Bonàs-Guarch S, Guindo-Martínez M, Cole JB, Kaur V, Torrents D, Veerapen K, Grarup N, Kurki M, Rundsten CF, Pedersen O, Brandslund I, Linneberg A, Hansen T, Leong A, Florez JC, Mercader JM.

Diabetes. 2022 Mar 1;71(3):554-565, online 2021 Dec 3:db210545. doi: 10.2337/db21-0545.

 

Integrated Analyses of Growth Differentiation Factor-15 Concentration and Cardiometabolic Diseases in Humans

Preprint

Susanna Lemmelä, Eleanor M. Wigmore, Christian Benner, Aki Havulinna, Rachel M. Y. Ong, Tibor Kempf, Kai C. Wollert, Stefan Blankenberg, Tanja Zeller, James E. Peters, Veikko Salomaa, Maria Fritsch, Ruth March, Aarno Palotie, Mark Daly, Adam S. Butterworth, Mervi Kinnunen, Dirk S. Paul, Athena Matakidou

medRxiv 2021.12.15.21267719; doi: https://doi.org/10.1101/2021.12.15.21267719

 

Genome-wide association study and multi-trait analysis of opioid use disorder identifies novel associations in 639,709 individuals of European and African ancestry

Preprint

Joseph D. Deak, Hang Zhou, Marco Galimberti, Daniel Levey, Frank R. Wendt, Sandra Sanchez-Roige, Alexander Hatoum, Emma C. Johnson, Yaira Z. Nunez, Ditte Demontis, Anders D. Børglum, Veera M. Rajagopal, Mariela V. Jennings, Rachel L. Kember, Amy C. Justice, Howard J. Edenberg, Arpana Agrawal, Renato Polimanti, Henry R. Kranzler, Joel Gelernter

medRxiv 2021.12.04.21267094; doi: https://doi.org/10.1101/2021.12.04.21267094

 

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity

Preprint

Kristin Tsuo, Wei Zhou, Ying Wang, Masahiro Kanai, Shinichi Namba, Rahul Gupta, Lerato Majara, Lethukuthula L. Nkambule, Takayuki Morisaki, Yukinori Okada, Benjamin M. Neale, Global Biobank Meta-analysis Initiative, Mark J. Daly, Alicia R. Martin

medRxiv 2021.11.30.21267108; doi: https://doi.org/10.1101/2021.11.30.21267108

 

Polygenic risk score from a multi-ancestry GWAS uncovers susceptibility of heart failure

Preprint

Kuan-Han H. Wu, Nicholas J. Douville, Matthew C. Konerman, Michael R. Mathis, Scott L. Hummel, Brooke N. Wolford, Ida Surakka, Sarah E. Graham, Hyeon Joo, Jibril Hirbo, Nancy J. Cox, Simon Lee, Michael Preuss, Ruth J.F. Loos, Mark J. Daly, Benjamin M. Neale, Wei Zhou, Whitney E. Hornsby, Cristen. J. Willer

medRxiv 2021.12.06.21267389; doi: https://doi.org/10.1101/2021.12.06.21267389

 

Global biobank analyses provide lessons for computing polygenic risk scores across diverse cohorts

Preprint

Ying Wang, Shinichi Namba, Esteban Lopera, Sini Kerminen, Kristin Tsuo, Kristi Läll, Masahiro Kanai, Wei Zhou, Kuan-Han Wu, Marie-Julie Favé, Laxmi Bhatta, Philip Awadalla, Ben Brumpton, Patrick Deelen, Kristian Hveem, Valeria Lo Faro, Reedik Mägi, Yoshinori Murakami, Serena Sanna, Jordan W. Smoller, Jasmina Uzunovic, Brooke N. Wolford, Global Biobank Meta-analysis Initiative, Cristen Willer, Eric R. Gamazon, Nancy J. Cox, Ida Surakka, Yukinori Okada, Alicia R. Martin, Jibril Hirbo

medRxiv 2021.11.18.21266545; doi: https://doi.org/10.1101/2021.11.18.21266545

 

November

Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland

Plotnikov D, Pärssinen O, Williams C, Atan D, Guggenheim JA..

J AAPOS. 2021 Nov 29:S1091-8531(21)00617-0. doi: 10.1016/j.jaapos.2021.07.015.

 

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Preprint

Wei Zhou, Masahiro Kaai, Kuan-Han H Wu et al.

medRxiv 2021.11.19.21266436; doi: https://doi.org/10.1101/2021.11.19.21266436

 

Diet-Derived Antioxidants Do Not Decrease Risk of Ischemic Stroke: A Mendelian Randomization Study in 1 Million People

Martens LG, Luo J, Willems van Dijk K, Jukema JW, Noordam R, van Heemst D.

J Am Heart Assoc. 2021 Nov 19:e022567. doi: 10.1161/JAHA.121.022567. 

 

Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study

Preprint

Min Seo Kim, Minku Song, Soyeon Kim, Beomsu Kim, Wonseok Kang, Jong Yeob Kim, Woojae Myung, Inhyeok Lee, Ron Do, Amit V Khera, Hong-Hee Won

medRxiv 2021.11.19.21266578; doi: https://doi.org/10.1101/2021.11.19.21266578

 

Global biobank analyses provide lessons for computing polygenic risk scores across diverse cohorts

Preprint

Ying Wang, Shinichi Namba, Esteban Lopera, Sini Kerminen, Kristin Tsuo, Kristi Läll, Masahiro Kanai, Wei Zhou, Kuan-Han Wu, Marie-Julie Favé, Laxmi Bhatta, Philip Awadalla, Patrick Deelen, Valeria Lo Faro, Reedik Mägi, Yoshinori Murakami, Ben Brumpton, Serena Sanna, Jasmina Uzunovic, Global Biobank Meta-analysis Initiative, Eric R. Gamazon, Nancy J. Cox, Ida Surakka, Yukinori Okada, Alicia R. Martin, Jibril Hirbo

medRxiv 2021.11.18.21266545; doi: https://doi.org/10.1101/2021.11.18.21266545

 

Human genetic evidence supports MAP3K15 inhibition as a therapeutic strategy for diabetes

Preprint

Abhishek Nag, Ryan S. Dhindsa, Andrew R. Harper, Dimitrios Vitsios, Andrea Ahnmark, Bilada Bilican, Katja Madeyski-Bengtson, Bader Zarrouki, Quanli Wang, Katherine Smith, Dave Smith, Benjamin Challis, Dirk S. Paul, Mohammad Bohlooly-Y, Mike Snowden, David Baker, Regina Fritsche-Danielson, Menelas N. Pangalos, Slavé Petrovski

medRxiv 2021.11.14.21266328; doi: https://doi.org/10.1101/2021.11.14.21266328

 

Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome

Tyrmi JS, Arffman RK, Pujol-Gualdo N, Kurra V, Morin-Papunen L, Sliz E; FinnGen Consortium, Estonian Biobank Research Team, Piltonen TT, Laisk T, Kettunen J, Laivuori H.

Hum Reprod. 2021 Nov 13:deab250. doi: 10.1093/humrep/deab250.

 

Causal Relationship Between Lung Function and Atrial Fibrillation: A Two Sample Univariable and Multivariable, Bidirectional Mendelian Randomization Study

Zhang Q, Zhang X, Zhang J, Wang B, Meng X, Tian Q, Zhang J, Jiang M, Zhang Y, Zheng D, Wu L, Wang W, Wang B, Wang Y. Front Cardiovasc Med. 2021 Nov 11;8:769198. doi: 10.3389/fcvm.2021.769198.

 

Serum Albumin and Circulating Metabolites and Risk of Venous Thromboembolism: A Two-Sample Mendelian Randomization Study

Liu Z, Mi J.

Front Nutr. 2021 Nov 11;8:712600. doi: 10.3389/fnut.2021.712600.

 

Risk of lower respiratory tract infections: A genome-wide association study with Mendelian randomization analysis in three independent European populations

Flatby HM, Rasheed H, Ravi A, Thomas LF, Liyanarachi KV, Afset JE, DeWan AT, Brumpton BM, Hveem K, Åsvold BO, Simonsen GS, Furberg AS, Damås JK, Solligård E, Rogne T.

Clin Microbiol Infect. 2021 Nov 8:S1198-743X(21)00631-5. doi: 10.1016/j.cmi.2021.11.004.

 

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

Preprint

H. O. Heyne, J. Karjalainen, K. J. Karczewski, S. M. Lemmelä, W. Zhou, FinnGen, A. S. Havulinna, M. Kurki, H. L. Rehm, A. Palotie, M. J. Daly

medRxiv 2021.11.06.21265920; doi: https://doi.org/10.1101/2021.11.06.21265920

 

Depression and Inflammatory Bowel Disease: A Bidirectional two-sample Mendelian Randomization Study

Luo J, Xu Z, Noordam R, van Heemst D, Li-Gao R.

J Crohns Colitis. 2021 Nov 5:jjab191. doi: 10.1093/ecco-jcc/jjab191.

 

A trans-omic Mendelian randomization study of parental lifespan uncovers novel aging biology and therapeutic candidates for chronic diseases

Perrot N, Pelletier W, Bourgault J, Couture C, Li Z, Mitchell PL, Ghodsian N, Bossé Y, Thériault S, Mathieu P, Arsenault BJ.

Aging Cell. 2021 Nov;20(11):e13497. doi: 10.1111/acel.13497. Epub 2021 Oct 27. 

 

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Deaton AM, Parker MM, Ward LD, Flynn-Carroll AO, BonDurant L, Hinkle G, Akbari P, Lotta LA; Regeneron Genetics Center; DiscovEHR Collaboration, Baras A, Nioi P.

Sci Rep. 2021 Nov 3;11(1):21565. doi: 10.1038/s41598-021-99091-5.

 

Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke

Leskelä J, Toppila I, Härma MA, Palviainen T, Salminen A, Sandholm N, Pietiäinen M, Kopra E, Pais de Barros JP; FinnGen, Lassenius MI, Kumar A, Harjutsalo V, Roslund K, Forsblom C, Loukola A, Havulinna AS, Lagrost L, Salomaa V, Groop PH, Perola M, Kaprio J, Lehto M, Pussinen PJ.

J Am Heart Assoc. 2021 Nov 2;10(21):e022482. doi: 10.1161/JAHA.121.022482.

 

Cardiometabolic, Lifestyle, and Nutritional Factors in Relation to Varicose Veins: A Mendelian Randomization Study.

Yuan S, Bruzelius M, Damrauer SM, Larsson SC.

J Am Heart Assoc. 2021 Nov 2;10(21):e022286. doi: 10.1161/JAHA.121.022286.

 

October

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

Preprint

Nuzulul Kurniansyah, Matthew O Goodman, Tanika Kelly, Tali Elfassi, Kerri L Wiggins, Joshua C Bis, Xiuqing Guo, Walter Palmas, Kent D Taylor, Henry J Lin, Jeffrey Haessler, Yan Gao, Daichi Shimbo, Jennifer A Smith, Bing Yu, Elena Feofanova, Roelof Smit, Zhe Wang, Shih-Jen Hwang, Simin Liu, Sylvia Wassertheil-Smoller, JoAnn E Manson, Donald M Lloyd-Jones, Stephen S Rich, Ruth JF Loos, Susan Redline, Adolfo Correa, Charles Kooperberg, Myriam Fornage, Robert C Kaplan, Bruce M Psaty, Jerome I Rotter, Donna K Arnett, Alanna C Morrison, Nora Franceschini, Daniel Levy, the NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium, Tamar Sofer

medRxiv 2021.10.31.21265717; doi: https://doi.org/10.1101/2021.10.31.21265717

 

The association between lymphocyte mitochondrial DNA abundance and Stroke: a combination of multivariable-adjusted survival and mendelian randomization analyses

Preprint

Leon G Martens, Jiao Luo, Marieke J H Wermer, et al.

medRxiv 2021.10.13.21261078; doi: https://doi.org/10.1101/2021.10.13.21261078

 

Coffee and Caffeine Consumption and Risk of Kidney Stones: A Mendelian Randomization Study

Yuan S, Larsson SC.

Am J Kidney Dis. 2021 Oct 19:S0272-6386(21)00712-5. doi: 10.1053/j.ajkd.2021.04.018. 

 

Somatically mutated genes in fatty liver disease have minimal influence on germline risk

Preprint

Jake P. Mann, Matthew Hoare

medRxiv 2021.10.18.21265159; doi: https://doi.org/10.1101/2021.10.18.21265159

 

Genome-wide Analysis Identifies Novel Gallstone-susceptibility Loci Including Genes Regulating Gastrointestinal Motility

Fairfield CJ, Drake TM, Pius R, Bretherick AD, Campbell A, Clark DW, Fallowfield JA, Hayward C, Henderson NC, Iakovliev A, Joshi PK, Mills NL, Porteous DJ, Ramachandran P, Semple RK, Shaw CA, Sudlow CL, Timmers PR, Wilson JF, Wigmore SJ, Spiliopoulou A, Harrison EM.

Hepatology. 2021 Oct 15. doi: 10.1002/hep.32199.

 

Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study

Yuan S, Baron JA, Michaëlsson K, Larsson SC.

NPJ Genom Med. 2021 Oct 14;6(1):86. doi: 10.1038/s41525-021-00250-4.

 

The validity of rheumatoid arthritis diagnoses in Finnish biobanks

Paltta J, Heikkilä HK, Pirilä L, Eklund KK, Huhtakangas J, Isomäki P, Kaipiainen-Seppänen O, Kristiansson K, Havulinna AS, Sokka-Isler T, Palomäki A; FinnGen investigators.

Scand J Rheumatol. 2021 Oct 13:1-9. doi: 10.1080/03009742.2021.1967047. 

 

ATP-citrate lyase as a therapeutic target in chronic kidney disease: a Mendelian Randomization analysis

Preprint

Pedrum Mohammadi-Shemirani, Michael Chong, Nicolas Perrot, Marie Pigeyre, Gregory R. Steinberg, Guillaume Paré, Joan C. Krepinsky, Matthew B. Lanktree

medRxiv 2021.10.07.21264710; doi: https://doi.org/10.1101/2021.10.07.21264710

 

DIRC3-IGFBP5 is a shared genetic risk locus and therapeutic target for carpal tunnel syndrome and trigger finger

Preprint

Benjamin Patel, Sam O. Kleeman, Drew Neavin, Joseph Powell, Georgios Baskozos, Michael Ng, Waheed-Ul-Rahman Ahmed, David L. Bennett, Annina Schmid, Dominic Furniss, Akira Wiberg

medRxiv 2021.10.07.21264697; doi: https://doi.org/10.1101/2021.10.07.21264697

 

Associations of insomnia on pregnancy and perinatal outcomes: Findings from Mendelian randomization and conventional observational studies in up to 356,069 women

Preprint

Qian Yang, M. Carolina Borges, Eleanor Sanderson, Maria C. Magnus, Fanny Kilpi, Paul J. Collings, Ana Luiza Soares, Jane West, Per Magnus, John Wright, Siri E. Håberg, Kate Tilling, Deborah A. Lawlor

medRxiv 2021.10.07.21264689; doi: https://doi.org/10.1101/2021.10.07.21264689

 

Novel insights into modifiable risk factors of cholelithiasis: A Mendelian randomization study

Chen L, Yang H, Li H, He C, Yang L, Lv G.

Hepatology. 2021 Oct 8. doi: 10.1002/hep.32183. 

 

A cross-population atlas of genetic associations for 220 human phenotypes

Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y; FinnGen, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y.

Nat Genet. 2021 Oct;53(10):1415-1424. doi: 10.1038/s41588-021-00931-x. 

 

September

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

Preprint

Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola

medRxiv 2021.09.27.21264091; doi: https://doi.org/10.1101/2021.09.27.21264091

 

Polygenic Score for Physical Activity Is Associated with Multiple Common Diseases

Sillanpää E, Palviainen T, Ripatti S, Kujala UM, Kaprio J.

Med Sci Sports Exerc. 2021 Sep 20. doi: 10.1249/MSS.0000000000002788. 

 

No Causal Association Between Adiponectin and the Risk of Rheumatoid Arthritis: A Mendelian Randomization Study

Chen H, Mi S, Zhu J, Jin W, Li Y, Wang T, Li Y, Fan C.

Front Genet. 2021 Sep 24;12:670282. doi: 10.3389/fgene.2021.670282. 

 

Novel protein-altering variants associated with serum apolipoprotein and lipid levels

Preprint

Niina Sandholm, Ronja Hotakainen, Jani K Haukka, Fanny Jansson Sigfrids, Emma H Dahlström, Anni Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Valma Harjutsalo, Carol Forsblom, Per-Henrik Groop

medRxiv 2021.09.19.21263610; doi: https://doi.org/10.1101/2021.09.19.21263610

 

Urticaria and increased risk of rheumatoid arthritis: a two-sample Mendelian randomisation study in European population

Yu X, Deng MG, Tang ZY, Zhang ZJ.

Mod Rheumatol. 2021 Sep 1:roab052. doi: 10.1093/mr/roab052.

 

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

Wightman DP, Jansen IE, Savage JE, Shadrin AA, Bahrami S, Holland D, Rongve A, Børte S, Winsvold BS, Drange OK, Martinsen AE, Skogholt AH, Willer C, Bråthen G, Bosnes I, Nielsen JB, Fritsche LG, Thomas LF, Pedersen LM, Gabrielsen ME, Johnsen MB, Meisingset TW, Zhou W, Proitsi P, Hodges A, Dobson R, Velayudhan L, Heilbron K, Auton A; 23andMe Research Team, Sealock JM, Davis LK, Pedersen NL, Reynolds CA, Karlsson IK, Magnusson S, Stefansson H, Thordardottir S, Jonsson PV, Snaedal J, Zettergren A, Skoog I, Kern S, Waern M, Zetterberg H, Blennow K, Stordal E, Hveem K, Zwart JA, Athanasiu L, Selnes P, Saltvedt I, Sando SB, Ulstein I, Djurovic S, Fladby T, Aarsland D, Selbæk G, Ripke S, Stefansson K, Andreassen OA, Posthuma D.

Nat Genet. 2021 Sep;53(9):1276-1282. doi: 10.1038/s41588-021-00921-z. Epub 2021 Sep 7.

 

Trans-ancestry genome-wide analysis of atrial fibrillation provides new insights into disease biology and enables polygenic prediction of cardioembolic risk

Preprint

Kazuo Miyazawa, Kaoru Ito, Zhaonan Zou, Hiroshi Matsunaga, Satoshi Koyama, Hirotaka Ieki, Seitaro Nomura, Masato Akiyama, Ryo Kurosawa, Hiroki Yoshida, Kouichi Ozaki, Yoshihiro Onouchi, BioBank Japan Project, Atsushi Takahashi, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Yukihide Momozawa, Chikashi Terao, Shinya Oki, Hiroshi Akazawa, Yoichiro Kamatani, Issei Komuro

medRxiv 2021.09.06.21263189; doi: https://doi.org/10.1101/2021.09.06.21263189

 

Insights from complex trait fine-mapping across diverse populations

Preprint

Masahiro Kanai, Jacob C Ulirsch, Juha Karjalainen, Mitja Kurki, Konrad J Karczewski, Eric Fauman, Qingbo S Wang, Hannah Jacobs, François Aguet, Kristin G Ardlie, Nurlan Kerimov, Kaur Alasoo, Christian Benner, Kazuyoshi Ishigaki, Saori Sakaue, Steven Reilly, The BioBank Japan Project, FinnGen, Yoichiro Kamatani, Koichi Matsuda, Aarno Palotie, Benjamin M Neale, Ryan Tewhey, Pardis C Sabeti, Yukinori Okada, Mark J Daly, Hilary K Finucane

medRxiv 2021.09.03.21262975; doi: https://doi.org/10.1101/2021.09.03.21262975

 

Genetically predicted obesity and risk of deep vein thrombosis

Tan JS, Liu NN, Guo TT, Hu S, Hua L.

Thromb Res. 2021 Sep 5;207:16-24. doi: 10.1016/j.thromres.2021.08.026. 

 

Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort

Ashvetiya T, Fan SX, Chen YJ, Williams CH, O'Connell JR, Perry JA, Hong CC.

PLoS One. 2021 Sep 1;16(9):e0247287. doi: 10.1371/journal.pone.0247287. eCollection 2021.

 

August

 

Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis

Sliz E, Huilaja L, Pasanen A, Laisk T, Reimann E, Mägi R; FinnGen; Estonian Biobank Research Team, Hannula-Jouppi K, Peltonen S, Salmi T, Koulu L, Tasanen K, Kettunen J.

J Allergy Clin Immunol. 2021 Aug 26:S0091-6749(21)01303-8. doi: 10.1016/j.jaci.2021.07.043.

 

Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis

Yuan S, Larsson SC.

Mol Genet Metab. 2021 Aug 22:S1096-7192(21)00774-5. doi: 10.1016/j.ymgme.2021.08.010.

 

A multidimensional Mendelian randomization study on the impact of gut dysbiosis on chronic diseases and human longevity

Preprint

Éloi Gagnon, Patricia L. Mitchell, Hasanga Manikpurage, Erik Abner, Nele Taba, Tõnu Esko, Nooshin Ghodsian, Sébastien Thériault, Patrick Mathieu, Benoit J. Arsenault

medRxiv 2021.08.20.21262026; doi: https://doi.org/10.1101/2021.08.20.21262026

 

Evidence of a causal relationship between genetic tendency to gain muscle mass and uterine leiomyomata

Preprint

Eeva Sliz, Jaakko Tyrmi, Nilufer Rahmioglu, Krina T. Zondervan, Christian M. Becker, FinnGen, Outi Uimari, Johannes Kettunen

medRxiv 2021.08.20.21262098; doi: https://doi.org/10.1101/2021.08.20.21262098

 

A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population

Rostalski H, Korhonen V, Kuulasmaa T, Solje E, Krüger J, Gen F, Kaivola K, Eide PK, Lambert JC, Julkunen V, Tienari PJ, Remes AM, Leinonen V, Hiltunen M, Haapasalo A.

J Alzheimers Dis. 2021 Aug 13. doi: 10.3233/JAD-210599. 

 

Genetically Predicted Milk Intake and Risk of Neurodegenerative Diseases

Zhang Z, Wang M, Yuan S, Larsson SC, Liu X.

Nutrients. 2021 Aug 23;13(8):2893. doi: 10.3390/nu13082893.

 

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

van Blokland IV, Lanting P, Ori APS, Vonk JM, Warmerdam RCA, Herkert JC, Boulogne F, Claringbould A, Lopera-Maya EA, Bartels M, Hottenga JJ, Ganna A, Karjalainen J; Lifelines COVID-19 cohort study; COVID-19 Host Genetics Initiative, Hayward C, Fawns-Ritchie C, Campbell A, Porteous D, Cirulli ET, Schiabor Barrett KM, Riffle S, Bolze A, White S, Tanudjaja F, Wang X, Ramirez JM 3rd, Lim YW, Lu JT, Washington NL, de Geus EJC, Deelen P, Boezen HM, Franke LH.

PLoS One. 2021 Aug 11;16(8):e0255402. doi: 10.1371/journal.pone.0255402. 

 

Coffee Consumption and Prostate Cancer Risk: Results from National Health and Nutrition Examination Survey 1999-2010 and Mendelian Randomization Analyses

Wang M, Jian Z, Yuan C, Jin X, Li H, Wang K.

Nutrients. 2021 Jul 5;13(7):2317. doi: 10.3390/nu13072317.

 

Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma 

Berta DG, Kuisma H, Välimäki N, Räisänen M, Jäntti M, Pasanen A, Karhu A, Kaukomaa J, Taira A, Cajuso T, Nieminen S, Penttinen RM, Ahonen S, Lehtonen R, Mehine M, Vahteristo P, Jalkanen J, Sahu B, Ravantti J, Mäkinen N, Rajamäki K, Palin K, Taipale J, Heikinheimo O, Bützow R, Kaasinen E, Aaltonen LA.

Nature. 2021 Aug;596(7872):398-403. doi: 10.1038/s41586-021-03747-1. Epub 2021 Aug 4. 

 

Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers

Palomäki A; FinnGen Rheumatology Clinical Expert Group, Palotie A, Koskela J, Eklund KK, Pirinen M; FinnGen, Ripatti S, Laitinen T, Mars N.

Ann Rheum Dis. 2021 Aug 3:annrheumdis-2021-220698. doi: 10.1136/annrheumdis-2021-220698.

 

Genetic Susceptibility to Pneumonia: A GWAS Meta-Analysis Between the UK Biobank and FinnGen

Campos AI, Kho P, Vazquez-Prada KX, García-Marín LM, Martin NG, Cuéllar-Partida G, Rentería ME.

Twin Res Hum Genet. 2021 Aug 3:1-10. doi: 10.1017/thg.2021.27. 

 

Multi-ancestry Multivariate Genome-Wide Analysis Highlights the Role of Common Genetic Variation in Cardiac Structure, Function, and Heart Failure-related Traits

Preprint

Michael G. Levin, Noah L. Tsao, Tiffany R. Bellomo, William P. Bone, Krishna G. Aragam, Yifan Yang, Michael P. Morley, Megan Burke, Renae L. Judy, Zoltan Arany, Thomas P. Cappola, Sharlene M. Day, Patrick T. Ellinor, Kenneth B. Margulies, Benjamin F. Voight, Scott M. Damrauer

medRxiv 2021.08.03.21261508; doi: https://doi.org/10.1101/2021.08.03.21261508

 

Multi-trait genome-wide association study identifies novel endometrial cancer risk loci that are associated with obesity or female testosterone levels

Preprint

Xuemin Wang, Pik Fang Kho, Dhanya Ramachandran, Cemsel Bafligil, Frederic Amant, Ellen L Goode, Rodney J Scott, Ian Tomlinson, D Gareth Evans, Endometrial Cancer Association Consortium, Emma J Crosbie, Thilo Dörk, Amanda B Spurdle, Dylan M Glubb, Tracy A O'Mara

medRxiv 2021.08.01.21261455; doi: https://doi.org/10.1101/2021.08.01.21261455

 

July

Design and quality control of large-scale two-sample Mendelian randomisation studies

Preprint

Philip C. Haycock, Maria Carolina Borges, Kimberly Burrows, Rozenn N. Lemaitre, Sean Harrison, Stephen Burgess, Xuling Chang, Jason Westra, Nikhil K. Khankari, Kostas Tsilidis, Tom Gaunt, Gib Hemani, Jie Zheng, Therese Truong, Tracy OMara, Amanda B. Spurdle, Matthew H. Law, Susan L. Slager, Brenda M. Birmann, Fatemeh Saberi Hosnijeh, Daniela Mariosa, ACCC, CCFR-CORECT-GECCO, EPITHYR, InterLymph, ECAC, ILCCO,  KIDRISK, PRACTICAL, PanScan, PanC4, Chris I. Amos, Rayjean J. Hung, Wei Zheng, Marc J. Gunter, George Davey Smith, Caroline Relton, Richard M Martin

medRxiv 2021.07.30.21260578; doi: https://doi.org/10.1101/2021.07.30.21260578

 

Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study

Si S, Li J, Tewara MA, Xue F.

Front Immunol. 2021 Jul 27;12:720876. doi: 10.3389/fimmu.2021.720876. eCollection 2021.

 

Assessing the role of cortisol in cancer: a wide-ranged Mendelian randomisation study

Larsson SC, Lee WH, Kar S, Burgess S, Allara Ebiobanks

Br J Cancer. 2021 Jul 27. doi: 10.1038/s41416-021-01505-8.

 

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

De T, Goncalves A, Speed D, Froguel P; NFBC consortium, Gaffney DJ, Johnson MR, Jarvelin MR, Coin LJ.

iScience. 2021 Jul 22;24(8):102893. doi: 10.1016/j.isci.2021.102893. 

 

Genome-wide association analysis reveals extensive genetic overlap between mood instability and psychiatric disorders but divergent patterns of genetic effects

Preprint

Guy Hindley, Kevin S. O’Connell, Zillur Rahman, Oleksandr Frei, Shahram Bahrami, Alexey Shadrin, Margrethe Collier Høegh, Weiqiu Cheng, Naz Karadag, Aihua Lin, Linn Rødevand, Chun C. Fan, Srdjan Djurovic, Trine Vik Lagerberg, Anders M. Dale, Olav B. Smeland,  Ole A. Andreassen

medRxiv 2021.07.16.21260608; doi: https://doi.org/10.1101/2021.07.16.21260608

 

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

Kho PF, Mortlock S; Endometrial Cancer Association Consortium; International Endometriosis Genetics Consortium, Rogers PAW, Nyholt DR, Montgomery GW, Spurdle AB, Glubb DM, O'Mara TA.

Hum Genet. 2021 Sep;140(9):1353-1365. doi: 10.1007/s00439-021-02312-0. Epub 2021 Jul 15.

 

Advancing our understanding of genetic risk factors and potential personalized strategies in pelvic organ prolapse: largest GWAS to date reveals 19 novel associated loci

Preprint

Natàlia Pujol-Gualdo, Kristi Läll, Maarja Lepamets, Estonian Biobank Research Team, Henna-Riikka Rossi, Riikka K Arffman, Terhi T Piltonen, Reedik Mägi, Triin Laisk

medRxiv 2021.07.08.21260068; doi: https://doi.org/10.1101/2021.07.08.21260068

 

Mapping the human genetic architecture of COVID-19

The COVID-19 Host Genetics Initiative

Nature (2021). https://doi.org/10.1038/s41586-021-03767-x

 

Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome

Lee J, Kiiskinen T, Mars N, Jukarainen S, Ingelsson E, Neale B, Ripatti S, Natarajan P, Ganna A.

Circ Genom Precis Med. 2021 Jul 7. doi: 10.1161/CIRCGEN.120.003283.

 

Genome-wide pleiotropy analysis of coronary artery disease and pneumonia identifies shared immune pathways

Preprint

Zhi Yu, Seyedeh M. Zekavat, Sara Haidermota, Rachel Bernardo, Peter Libby, Hilary Finucane, Pradeep Natarajan

medRxiv 2021.07.05.21260028; doi: https://doi.org/10.1101/2021.07.05.21260028

 

Low mitochondrial copy number drives atherogenic cardiovascular disease: evidence from prospective cohort analyses in the UK Biobank combined with Mendelian Randomization

Preprint

Jiao Luo, Raymond Noordam, J Wouter Jukema, Ko Willems van Dijk, Sara Hägg, Felix Grassmann, Saskia le Cessie, Diana van Heemst

medRxiv 2021.07.01.21259854; doi: https://doi.org/10.1101/2021.07.01.21259854

 

Coffee Consumption and Cardiovascular Diseases: A Mendelian Randomization Study

Yuan S, Carter P, Mason AM, Burgess S, Larsson SC.

Nutrients. 2021 Jun 28;13(7):2218. doi: 10.3390/nu13072218. 

 

Smoking, alcohol and coffee consumption and pregnancy loss: a Mendelian randomization investigation

Yuan S, Liu J, Larsson SC.

Fertil Steril. 2021 Jun 26:S0015-0282(21)00478-7. doi: 10.1016/j.fertnstert.2021.05.103.

 

Loss-of-function of MFGE8 and protection against coronary atherosclerosis

Preprint

Sanni E. Ruotsalainen, Ida Surakka, Nina Mars, Juha Karjalainen, Mitja Kurki, Masahiro Kanai, Kristi Krebs, Pashupati P. Mishra, Binisha H. Mishra, Juha Sinisalo, Priit Palta, Terho Lehtimäki, Olli Raitakari, Estonian Biobank research team, Lili Milani, The Biobank Japan Project, Yukinori Okada, FinnGen, Aarno Palotie, Elisabeth Widen, Mark J. Daly, Samuli Ripatti

medRxiv 2021.06.23.21259381; doi: https://doi.org/10.1101/2021.06.23.21259381

 

GWAS meta-analysis and gene expression data link reproductive tract development, immune response and cellular proliferation/apoptosis with cervical cancer and clarify overlap with other cervical phenotypes

Preprint

Mariann Koel, Urmo Võsa, Maarja Lepamets, Hannele Laivuori, Susanna Lemmelä, Mark Daly, Estonian Biobank Research Team, FinnGen, Priit Palta, Reedik Mägi, Triin Laisk

medRxiv 2021.06.18.21259075; doi: https://doi.org/10.1101/2021.06.18.21259075

 

Genome-wide association study identifies five risk loci for pernicious anemia

Laisk T, Lepamets M, Koel M, Abner E; Estonian Biobank Research Team, Mägi R.

Nat Commun. 2021 Jun 18;12(1):3761. doi: 10.1038/s41467-021-24051-6. 

 

Genetically predicted adiposity, diabetes and lifestyle factors in relation to diverticular disease

Yuan S, Larsson SC.

Clin Gastroenterol Hepatol. 2021 Jun 14:S1542-3565(21)00641-8. doi: 10.1016/j.cgh.2021.06.013.

 

A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor

Green HD, Jones A, Evans JP, Wood AR, Beaumont RN, Tyrrell J, Frayling TM, Smith C, Weedon MN.

PLoS Genet. 2021 Jun 10;17(6):e1009577. doi: 10.1371/journal.pgen.1009577. 

 

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P.

Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. 

 

Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy

Hale AT, Akinnusotu O, He J, Wang J, Hibshman N, Shannon CN, Naftel RP.

Neurosurgery. 2021 Jun 7:nyab184. doi: 10.1093/neuros/nyab184. Epub ahead of print. 

 

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4

Patyra K, Makkonen K, Haanpää M, Karppinen S, Viikari L, Toppari J, Reeve MP, Kero J.

Front Endocrinol (Lausanne). 2021 May 21;12:658137. doi: 10.3389/fendo.2021.658137.

 

Genetically predicted circulating vitamin C in relation to cardiovascular disease

Yuan S, Zheng JS, Mason AM, Burgess S, Larsson SC.

Eur J Prev Cardiol. 2021 May 31:zwab081. doi: 10.1093/eurjpc/zwab081. 

 

Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population

Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium.

JAMA Ophthalmol. 2021 Jun 3:e211610. doi: 10.1001/jamaophthalmol.2021.1610. Epub ahead of print.

 

Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions

Levey DF, Stein MB, Wendt FR, Pathak GA, Zhou H, Aslan M, Quaden R, Harrington KM, Nuñez YZ, Overstreet C, Radhakrishnan K, Sanacora G, McIntosh AM, Shi J, Shringarpure SS; 23andMe Research Team; Million Veteran Program, Concato J, Polimanti R, Gelernter J.

Nat Neurosci. 2021 May 27. doi: 10.1038/s41593-021-00860-2.

 

Causal effect of renal function on venous thromboembolism: a two-sample Mendelian randomization investigation

Yuan S, Bruzelius M, Larsson SC.

J Thromb Thrombolysis. 2021 May 27. doi: 10.1007/s11239-021-02494-4. Epub ahead of print. 

 

Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease

Sipeky, C., Tammela, T.L.J., Auvinen, A, Schleutker J. 

Prostate Cancer Prostatic Dis (2021). https://doi.org/10.1038/s41391-021-00378-5

 

Multi-omics study revealing putative drug targets of COVID-19 severity and other viral infection diseases

Preprint

Jie Zheng, Yuemiao Zhang, Yi Liu, Denis Baird, Mohd Anisul Karim, Maya Ghoussaini, Jeremy Schwartzentruber, Ian Dunham, Benjamin Elsworth, Katherine Roberts, Hannah Compton, Felix Miller-Molloy, Xingzi Liu, Lin Wang, Hong Zhang, George Davey Smith, Tom R Gaunt

medRxiv 2020.05.07.20093286; doi: https://doi.org/10.1101/2020.05.07.20093286

 

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

Preprint

Jukka T. Koskela, Paavo Häppölä, Aoxing Liu, FinnGen, Juulia Partanen, Giulio Genovese, Mykyta Artomov, Mikko N.M. Myllymäki, Masahiro Kanai, Wei Zhou, Juha M. Karjalainen, Teemu Palviainen, Justiina Ronkainen, Sylvain Sebert, Taru Tukiainen, Priit Palta, Jaakko Kaprio, Mitja Kurki, Andrea Ganna, Aarno Palotie, Tarja Laitinen, Marjukka Myllärniemi, Mark J. Daly

medRxiv 2021.05.07.21255988; doi: https://doi.org/10.1101/2021.05.07.21255988

 

Genetic factors affect the susceptibility to bacterial infections in diabetes

Simonsen JR, Käräjämäki A, Antikainen AA, Toppila I, Ahlqvist E, Prasad R, Mansour-Aly D, Harjutsalo V, Järvinen A, Tuomi T, Groop L, Forsblom C, Groop PH, Sandholm N, Lehto M.

Sci Rep. 2021 May 4;11(1):9464. doi: 10.1038/s41598-021-88273-w.

 

Whole exome sequencing in the UK Biobank reveals risk gene SLC2A1 and biological insights for major depressive disorder

Preprint

Ruoyu Tian, Tian Ge, Jimmy Z. Liu, Max Lam, Biogen Biobank team, Daniel F. Levey, Joel Gelernter, Murray B. Stein, Ellen A. Tsai, Hailiang Huang, Todd Lencz, Heiko Runz, Chia-Yen Chen

medRxiv 2021.05.04.21256398; doi: https://doi.org/10.1101/2021.05.04.21256398

 

Predictors and Outcomes of Coronary Artery Bypass Grafting: A Systematic and Untargeted Analysis of More Than 120,000 Individuals and 1,300 Disease Traits

Aittokallio J, Kauko A, Palmu J; FinnGen, Niiranen T.

J Cardiothorac Vasc Anesth. 2021 Mar 27:S1053-0770(21)00281-0. doi: 10.1053/j.jvca.2021.03.039. Epub ahead of print. 

 

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

Preprint

João Fadista, Line Skotte, Juha Karjalainen, Erik Abner, Erik Sørensen, Henrik Ullum, Thomas Werge, iPSYCH-group, Tõnu Esko, Lili Milani, Aarno Palotie, Mark Daly, FinnGen, Mads Melbye, Bjarke Feenstra, Frank Geller

medRxiv 2021.04.27.21256188; doi: https://doi.org/10.1101/2021.04.27.21256188

 

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease

Helkkula P, Kiiskinen T, Havulinna AS, Karjalainen J, Koskinen S, Salomaa V, Daly MJ, Palotie A, Surakka I, Ripatti S; FinnGen.

PLoS Genet. 2021 Apr 28;17(4):e1009501. doi: 10.1371/journal.pgen.1009501. Epub ahead of print.

 

Genetic analyses on the health impacts of testosterone highlights effects on female-specific diseases and sex differences

Preprint

Jaakko T. Leinonen, Nina Mars, Leevi E. Lehtonen, Ari Ahola-Olli, Sanni Ruotsalainen, Terho Lehtimäki, Mika Kähönen, Olli Raitakari, Mark Daly, Tiinamaija Tuomi, Samuli Ripatti, Matti Pirinen, Taru Tukiainen

medRxiv 2021.04.23.21255981; doi: https://doi.org/10.1101/2021.04.23.21255981

 

The impact of non-additive genetic associations on age-related complex diseases

Guindo-Martínez M, Amela R, Bonàs-Guarch S, Puiggròs M, Salvoro C, Miguel-Escalada I, Carey CE, Cole JB, Rüeger S, Atkinson E, Leong A, Sanchez F, Ramon-Cortes C, Ejarque J, Palmer DS, Kurki M; FinnGen Consortium, Aragam K, Florez JC, Badia RM, Mercader JM, Torrents D.

Nat Commun 12, 2436 (2021). https://doi.org/10.1038/s41467-021-21952-4

 

Homocysteine, B vitamins, and cardiovascular disease: a Mendelian randomization study

Yuan S, Mason AM, Carter P, Burgess S, Larsson SC

BMC Med. 2021 Apr 23;19(1):97. doi: 10.1186/s12916-021-01977-8

 

Genetic analyses identify widespread sex-differential participation bias

Pirastu N, Cordioli M, Nandakumar P, Mignogna G, Abdellaoui A, Hollis B, Kanai M, Rajagopal VM, Parolo PDB, Baya N, Carey CE, Karjalainen J, Als TD, Van der Zee MD, Day FR, Ong KK; FinnGen Study; 23andMe Research Team; iPSYCH Consortium, Morisaki T, de Geus E, Bellocco R, Okada Y, Børglum AD, Joshi P, Auton A, Hinds D, Neale BM, Walters RK, Nivard MG, Perry JRB, Ganna A.

Nat Genet. 2021 Apr 22. doi: 10.1038/s41588-021-00846-7. Epub ahead of print.

 

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; FinnGen, Peloso GM.

Nat Commun. 2021 Apr 12;12(1):2182. doi: 10.1038/s41467-021-22339-1. 

 

Genetically predicted circulating B vitamins in relation to digestive system cancers

Yuan S, Carter P, Vithayathil M, Kar S, Mason AM, Burgess S, Larsson SC.

Br J Cancer. 2021 Apr 9. doi: 10.1038/s41416-021-01383-0. Epub ahead of print.

 

Genetically Proxied Inhibition of Coagulation Factors and Risk of Cardiovascular Disease: A Mendelian Randomization Study

Yuan S, Burgess S, Laffan M, Mason AM, Dichgans M, Gill D, Larsson SC.

J Am Heart Assoc. 2021 Apr 20;10(8):e019644. doi: 10.1161/JAHA.120.019644. Epub 2021 Apr 9.

 

Plasma Cortisol and Risk of Atrial Fibrillation: A Mendelian Randomization Study

Larsson SC, Lee WH, Burgess S, Allara E.

J Clin Endocrinol Metab. 2021 Apr 5:dgab219. doi: 10.1210/clinem/dgab219. Epub ahead of print.

 

Educational attainment protects against epilepsy independent of cognitive function: A Mendelian randomization study

Wang M, Zhang Z, Liu D, Xie W, Ma Y, Yao J, Zhu L, Liu M, Sheng S, Lian X.

Epilepsia. 2021 Apr 5. doi: 10.1111/epi.16894. Epub ahead of print. 

 

Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study

Bowden SJ, Bodinier B, Kalliala I, Zuber V, Vuckovic D, Doulgeraki T, Whitaker MD, Wielscher M, Cartwright R, Tsilidis KK, Bennett P, Jarvelin MR, Flanagan JM, Chadeau-Hyam M, Kyrgiou M; FinnGen consortium.

Lancet Oncol. 2021 Apr;22(4):548-557. doi: 10.1016/S1470-2045(21)00028-0. 

 

Association of structural variation with cardiometabolic traits in Finns

Chen L, Abel HJ, Das I, Larson DE, Ganel L, Kanchi KL, Regier AA, Young EP, Kang CJ, Scott AJ, Chiang C, Wang X, Lu S, Christ R, Service SK, Chiang CWK, Havulinna AS, Kuusisto J, Boehnke M, Laakso M, Palotie A, Ripatti S, Freimer NB, Locke AE, Stitziel NO, Hall IM.

Am J Hum Genet. 2021 Apr 1;108(4):583-596. doi: 10.1016/j.ajhg.2021.03.008

 

Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study

Yuan S, Giovannucci EL, Larsson SC.

NPJ Genom Med. 2021 Mar 29;6(1):27. doi: 10.1038/s41525-021-00189-6. 

 

Atlas of epistasis

Preprint

Clément Chatelain, Samuel Lessard, Vincent Thuillier, Cedric Carliez, Deepak Rajpal, Franck Augé

medRxiv 2021.03.17.21253794; doi: https://doi.org/10.1101/2021.03.17.21253794

 

Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation

Clausen AG, Vad OB, Andersen JH, Olesen MS.

Front Cardiovasc Med. 2021 Mar 9;8:650667. doi: 10.3389/fcvm.2021.650667. 

 

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Dhindsa RS, Mattsson J, Nag A, Wang Q, Wain LV, Allen R, Wigmore EM, Ibanez K, Vitsios D, Deevi SVV, Wasilewski S, Karlsson M, Lassi G, Olsson H, Muthas D, Monkley S, Mackay A, Murray L, Young S, Haefliger C; FinnGen Consortium, Maher TM, Belvisi MG, Jenkins G, Molyneaux PL, Platt A, Petrovski S.

Commun Biol. 2021 Mar 23;4(1):392. doi: 10.1038/s42003-021-01910-y. 

 

Circulating galectin-3 levels are not associated with non-alcoholic fatty liver disease: A Mendelian randomization study

Tremblay M, Perrot N, Ghodsian N, Gobeil É, Couture C, Mitchell PL, Thériault S, Arsenault BJ.

J Clin Endocrinol Metab. 2021 Mar 8:dgab144. doi: 10.1210/clinem/dgab144.

 

Modifiable risk factors for epilepsy: A two-sample Mendelian randomization study

Yuan S, Tomson T, Larsson SC.

Brain Behav. 2021 Mar 2:e02098. doi: 10.1002/brb3.2098. Epub ahead of print. 

 

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team, Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL.

Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. PMID: 33627673.

 

Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk

Vaura F, Kauko A, Suvila K, Havulinna AS, Mars N, Salomaa V, FinnGen, Cheng S, Niiranen T

Hypertension 2021 Feb 22:HYPERTENSIONAHA12016471. doi: 10.1161/HYPERTENSIONAHA.120.16471. Epub ahead of print. 

 

Mendelian randomization highlights insomnia as a risk factor for pain diagnoses

Broberg M, Karjalainen J, Ollila HM; FinnGen

Sleep. 2021 Feb 20:zsab025. doi: 10.1093/sleep/zsab025. Epub ahead of print. 

 

HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schönlein purpura nephritis in Finnish pediatric population: a genome-wide association study

Koskela M, Nihtilä J, Ylinen E, Kolho KL, Nuutinen M, Ritari J, Jahnukainen T.

Pediatr Nephrol. 2021 Feb 16. doi: 10.1007/s00467-021-04955-7. Epub ahead of print.

 

A meta-analysis uncovers the first sequence variant conferring risk of Bells palsy

Skuladottir AT, Bjornsdottir G, Thorleifsson G, Walters GB, Nawaz MS, Moore KHS, Olason PI, Thorgeirsson TE, Sigurpalsdottir B, Sveinbjornsson G, Eggertsson HP, Magnusson SH, Oddsson A, Bjornsdottir A, Vikingsson A, Sveinsson OA, Hrafnsdottir MG, Sigurdardottir GR, Halldorsson BV, Hansen TF, Paarup H, Erikstrup C, Nielsen K, Klokker M, Bruun MT, Sorensen E, Banasik K, Burgdorf KS, Pedersen OB, Ullum H, Jonsdottir I, Stefansson H, Stefansson K. 

Sci Rep. 2021 Feb 18;11(1):4188. doi: 10.1038/s41598-021-82736-w.

 

A genetically-informed study disentangling the relationships between tobacco smoking, cannabis use, alcohol consumption, substance use disorders and respiratory infections, including COVID-19

Preprint

Daniel B. Rosoff, Joyce Yoo, Falk W. Lohoff

medRxiv 2021.02.11.21251581; doi: https://doi.org/10.1101/2021.02.11.21251581

 

Genome-wide association study reveals genetic risk factors for trigeminal neuralgia

Preprint

Andrew T. Hale, Jing He, Oluwatoyin Akinnusotu, Rebecca L. Sale, Janey Wang, Lisa Bastarache, Eric R. Gamazon

medRxiv 2021.02.08.21251349; doi: https://doi.org/10.1101/2021.02.08.21251349

 

Enhanced genetic analysis of type 1 diabetes by selecting variants on both effect size and significance, and by integration with autoimmune thyroid disease

Preprint

Daniel J.M. Crouch, Jamie R.J. Inshaw, Catherine C. Robertson, Jia-Yuan Zhang, Wei-Min Chen, Suna Onengut-Gumuscu, Antony J. Cutler, Carlo Sidore, Francesco Cucca, Flemming Pociot, Patrick Concannon, Steven S. Rich, John A. Todd

bioRxiv 2021.02.05.429962; doi: https://doi.org/10.1101/2021.02.05.429962

 

Genetics of 35 blood and urine biomarkers in the UK Biobank

Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A; FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA.

Nat Genet. 2021 Feb;53(2):185-194. doi: 10.1038/s41588-020-00757-z. Epub 2021 Jan 18.

 

Genome-wide meta-analysis of pneumonia suggests a role for mucin biology and provides novel drug repurposing opportunities

Preprint

William R. Reay, Michael P. Geaghan, 23andMe Research Team, Murray J. Cairns

medRxiv 2021.01.24.21250424; doi: https://doi.org/10.1101/2021.01.24.21250424

 

Sleep apnoea is a risk factor for severe COVID-19

Strausz S, Kiiskinen T, Broberg M, Ruotsalainen S, Koskela J, Bachour A; FinnGen, Palotie A, Palotie T, Ripatti S, Ollila HM.

BMJ Open Respir Res. 2021 Jan;8(1):e000845. doi: 10.1136/bmjresp-2020-000845.

 

Large-scale genetic association and single cell accessible chromatin mapping defines cell type-specific mechanisms of type 1 diabetes risk

Preprint

Joshua Chiou, Ryan J Geusz, Mei-Lin Okino, Jee Yun Han, Michael Miller, Paola Benaglio, Serina Huang, Katha Korgaonkar, Sandra Heller, Alexander Kleger, Sebastian Preissl, David U Gorkin, Maike Sander, Kyle J Gaulton

bioRxiv 2021.01.13.426472; doi: https://doi.org/10.1101/2021.01.13.426472

 

Polygenic Risk Scores for Alzheimer’s Disease and Mild Cognitive Impairment in Hispanics/Latinos in the U.S: The Study of Latinos – Investigation of Neurocognitive Aging

Preprint

Tamar Sofer, Nuzulul Kurniansyah, Einat Granot-Hershkovitz, Matthew O. Goodman, Wassim Tarraf, Iris Broce, Richard B. Lipton, Martha Daviglus, Melissa Lamar, Sylvia Wassertheil-Smoller, Jianwen Cai, Charles S. DeCarli, Hector M. Gonzalez, Myriam Fornage

medRxiv 2021.01.08.21249413; doi: https://doi.org/10.1101/2021.01.08.21249413

 

Obesity, Type 2 Diabetes, Lifestyle Factors, and Risk of Gallstone Disease: A Mendelian Randomization Investigation

Yuan S, Gill D, Giovannucci EL, Larsson SC.

Clin Gastroenterol Hepatol. 2021 Jan 6:S1542-3565(21)00001-X. doi: 10.1016/j.cgh.2020.12.034. Online ahead of print.

 

Diet-Derived Circulating Antioxidants and Risk of Coronary Heart Disease: A Mendelian Randomization Study

Luo J, le Cessie S, van Heemst D, Noordam R.J

Am Coll Cardiol. 2021 Jan 5;77(1):45-54. doi: 10.1016/j.jacc.2020.10.048.

 

2020

 

Investigating Causal Relations Between Sleep-Related Traits and Risk of Type 2 Diabetes Mellitus: A Mendelian Randomization Study

Gao X, Sun H, Zhang Y, Liu L, Wang J, Wang T.

Front Genet. 2020 Dec 15;11:607865. doi: 10.3389/fgene.2020.607865. eCollection 2020.

 

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Mars N, Widén E, Kerminen S, Meretoja T, Pirinen M, Della Briotta Parolo P, Palta P; FinnGen, Palotie A, Kaprio J, Joensuu H, Daly M, Ripatti S.

Nat Commun. 2020 Dec 14;11(1):6383. doi: 10.1038/s41467-020-19966-5.

 

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

Strausz S, Ruotsalainen S, Ollila HM, Karjalainen J, Kiiskinen T, Reeve M, Kurki M, Mars N, Havulinna AS, Luonsi E, Mansour Aly D, Ahlqvist E, Teder-Laving M, Palta P, Groop L, Mägi R, Mäkitie A, Salomaa V, Bachour A, Tuomi T, Palotie A, Palotie T, Ripatti S; FinnGen research group.

Eur Respir J. 2020 Dec 10:2003091. doi: 10.1183/13993003.03091-2020. Online ahead of print.

 

Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study

Emdin CA, Haas M, Ajmera V, Simon TG, Homburger J, Neben C, Jiang L, Wei WQ, Feng Q, Zhou A, Denny J, Corey K, Loomba R, Kathiresan S, Khera AV.Gastroenterology. 2020 Dec 10:S0016-5085(20)35545-1. doi: 10.1053/j.gastro.2020.12.011. Online ahead of print.

 

Evaluating the relationship between alcohol consumption, tobacco use, and cardiovascular disease: A multivariable Mendelian randomization study

Rosoff DB, Davey Smith G, Mehta N, Clarke TK, Lohoff FW.PLoS Med. 2020 Dec 4;17(12):e1003410. doi: 10.1371/journal.pmed.1003410. eCollection 2020 Dec.

 

Genetically proxied milk consumption and risk of colorectal, bladder, breast, and prostate cancer: a two-sample Mendelian randomization study.

Larsson SC, Mason AM, Kar S, Vithayathil M, Carter P, Baron JA, Michaëlsson K, Burgess S.BMC Med. 2020 Dec 2;18(1):370. doi: 10.1186/s12916-020-01839-9.

 

Findings and insights from the genetic investigation of age of first reported occurrence for complex disorders in the UK Biobank and FinnGen

Preprint

Yen-Chen A. Feng, Tian Ge, Mattia Cordioli, FinnGen, Andrea Ganna, Jordan W. Smoller, Benjamin M. Neale

medRxiv 2020.11.20.20234302; doi: https://doi.org/10.1101/2020.11.20.20234302

 

New insights on the genetic etiology of Alzheimer’s and related dementia

Preprint

Céline Bellenguez, Fahri Küçükali, Iris Jansen, et al.

medRxiv 2020.10.01.20200659; doi: https://doi.org/10.1101/2020.10.01.20200659

 

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

Preprint

Joel T. Rämö, Tuomo Kiiskinen, Juha Karjalainen, Kristi Krebs, Mitja Kurki, Aki S. Havulinna, Eija Hämäläinen, Paavo Häppölä, Heidi Hautakangas, FinnGen, Konrad J. Karczewski, Masahiro Kanai, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Samuli Ripatti, Lili Milani, Antti Mäkitie, Mark J. Daly, Aarno Palotie

medRxiv 2020.11.15.20227868; doi: https://doi.org/10.1101/2020.11.15.20227868

 

Overall and abdominal obesity in relation to venous thromboembolism

Yuan S, Bruzelius M, Xiong Y, Håkansson N, Åkesson A, Larsson SC.

J Thromb Haemost. 2020 Nov 12. doi: 10.1111/jth.15168. Online ahead of print.

 

Genetically predicted plasma phospholipid arachidonic acid concentrations and 10 site-specific cancers in UK biobank and genetic consortia participants: A mendelian randomization study

Larsson SC, Carter P, Vithayathil M, Mason AM, Michaëlsson K, Baron JA, Burgess S.

Clin Nutr. 2020 Nov 7:S0261-5614(20)30608-7. doi: 10.1016/j.clnu.2020.11.004. Online ahead of print.

 

Association of Cardiovascular Risk Factors and Lifestyle Behaviors With Hypertension: A Mendelian Randomization Study

van Oort S, Beulens JWJ, van Ballegooijen AJ, Grobbee DE, Larsson SC.

Hypertension. 2020 Dec;76(6):1971-1979. doi: 10.1161/HYPERTENSIONAHA.120.15761. Epub 2020 Nov 2.

 

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

Preprint

Rounak Dey, Wei Zhou, Tuomo Kiiskinen, Aki Havulinna, Amanda Elliott, Juha Karjalainen, Mitja Kurki, Ashley Qin, FinnGen, Seunggeun Lee, Aarno Palotie, Benjamin Neale, Mark Daly, Xihong Lin

bioRxiv 2020.10.31.358234; doi: https://doi.org/10.1101/2020.10.31.358234

 

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni E. Ruotsalainen,  VJuulia J. Partanen, Anna Cichonska, Jake Lin, Christian Benner, Ida Surakka, FinnGen, Mary Pat Reeve, Priit Palta, Marko Salmi, Sirpa Jalkanen, Ari Ahola-Olli, Aarno Palotie, Veikko Salomaa, Mark J. Daly, Matti Pirinen, Samuli Ripatti, Jukka Koskela

Eur J Hum Genet. 2020 Oct 27. Epub ahead of print. doi: 10.1038/s41431-020-00730-8.

 

Validation of Psoriasis Diagnoses Recorded in Finnish Biobanks

Haverinen S, Vihervaara A, Löyttyniemi E, Peltonen S, Koulu L, Tasanen K, Huilaja L; FinnGen investigators.

Acta Derm Venereol. 2020 Oct 21;100(17):adv00297. doi: 10.2340/00015555-3656

 

Genome-Wide Polygenic Risk Score Identifies Individuals at Elevated Parkinson’s Disease Risk

Preprint

Yingnan Han, Erin Teeple, Srinivas Shankara, Mahdiar Sadeghi, Cheng Zhu, Dongyu Liu, FinnGen, Clarence Wang, Francesca Frau, Katherine W. Klinger, Stephen L. Madden, Deepak Rajpal, S. Pablo Sardi, Dinesh Kumar

doi: https://doi.org/10.1101/2020.10.16.20212944

 

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Nature (2020)

Erik L Bao, Satish Nandakumar, Xiaotian Liao, Alexander Bick, Juha Karjalainen, Marcin Tabaka, Olga I. Gan, Aki Havulinna, Tuomo Kiiskinen, Caleb A. Lareau, Aitzkoa L. de Lapuente Portilla, Bo Li, Connor Emdin, Veryan Codd, Christopher P. Nelson, Christopher J. Walker, Claire Churchhouse, Albert de la Chapelle, Daryl E. Klein, Björn Nilsson, Peter W.F. Wilson, Kelly Cho, Saiju Pyarajan, J. Michael Gaziano, Nilesh J. Samani, FinnGen, 23andMe Research Team, Aviv Regev, Aarno Palotie, Benjamin M. Neale, John E. Dick, Pradeep Natarajan, Christopher J. O’Donnell, Mark J. Daly, Michael Milyavsky, Sekar Kathiresan, Vijay G. Sankaran

https://doi.org/10.1038/s41586-020-2786-7

 

Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks

Fritsche LG, Patil S, Beesley LJ, VandeHaar P, Salvatore M, Ma Y, Peng RB, Taliun D, Zhou X, Mukherjee B.

Am J Hum Genet. 2020 Nov 5;107(5):815-836. doi: 10.1016/j.ajhg.2020.08.025. Epub 2020 Sep 28. 

 

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Preprint

Anubha Mahajan, Cassandra N Spracklen, Weihua Zhang ym. 

https://www.medrxiv.org/content/10.1101/2020.09.22.20198937v1

 

An atlas on risk factors for type 2 diabetes: a wide-angled Mendelian randomisation study

Shuai Yuan, Susanna C Larsson

Diabetologia 2020 Sep 8. doi: 10.1007/s00125-020-05253-x. Online ahead of print.

 

Sleep duration and risk of overall and 22 site-specific cancers: A Mendelian randomization study.

Titova OE, Michaëlsson K, Vithayathil M, Mason AM, Kar S, Burgess S, Larsson SC.

Int J Cancer. 2020 Sep 7. doi: 10.1002/ijc.33286. Epub ahead of print.

 

Assessing the efficacy and safety of angiotensinogen inhibition using human genetics

Preprint

Jonas Bovijn, Jenny C Censin, Cecilia M Lindgren, Michael V Holmes

doi: https://doi.org/10.1101/2020.08.13.20174094

 

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration

Xikun Han, Puya Gharahkhani, Paul Mitchell, Gerald Liew, Alex W Hewitt, Stuart MacGregor

J Hum Genet. 2020 Aug;65(8):657-665. doi: 10.1038/s10038-020-0750-x. Epub 2020 Apr 10.

 

A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling

Benjamin A T Rodriguez, Arunoday Bhan, Andrew Beswick, Peter C Elwood, Teemu J Niiranen, Veikko Salomaa, FinnGen Study; David-Alexandre Trégouët, Pierre-Emmanuel Morange, Mete Civelek, Yoav Ben-Shlomo, Thorsten Schlaeger, Ming-Huei Chen, Andrew D Johnson

Am J Hum Genet. 2020 Jul 4;S0002-9297(20)30196-8. doi: 10.1016/j.ajhg.2020.06.008. Online ahead of print.

 

The genetic architecture of human infectious diseases and pathogen-induced cellular phenotypes

Preprint

Andrew T Hale, Dan Zhou, Lisa Bastarache, Liuyang Wang, Sandra S Zinkel, Steven J Schiff, Dennis C Ko, Eric R. Gamazon

medRxiv 2020.07.19.20157404; doi: https://doi.org/10.1101/2020.07.19.20157404

 

Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

Preprint

Evonne McArthur, David Rinker, John A. Capra

https://www.biorxiv.org/content/10.1101/2020.06.08.140087v1

 

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease

Preprint

Catherine Tcheandjieu, Ke Xiao, Heliodoro Tejeda, Julie Lynch, Sanni Ruotsalainen, Tiffany Bellomo, Madhuri Palnati, Renae Judy, Rachel Kember, Derek Klarin, Rachel Kember, Shefali Verma, Regeneron Genetics Center, VA Million Veterans Program, FinnGen Project, Aarno Palotie, Mark Daly, Marylyn Ritchie, Daniel Rader, Manuel A Rivas, Themosticles Assimes, Philip Tsao, Scott Damrauer, James Priest

https://www.medrxiv.org/content/10.1101/2020.05.29.20102335v1

 

Increasing accuracy of HLA imputation by a population-specific reference panel in a FinnGen biobank cohort

Ritari J, Hyvärinen K, Clancy J; FinnGen, Partanen J, Koskela S

NAR Genom Bioinform. 2020 May 6;2(2):lqaa030. doi: 10.1093/nargab/lqaa030

 

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

Preprint

Iain Mathieson, Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, eQTLGen Consortium, BIOS Consortium, Ahmad Vaez, Natalie van Zuydam, Bárbara D. Bitarello, Harold Snieder, Marcel den Hoed, Ken K. Ong, Melinda C. Mills, John R.B. Perry, on behalf of the Human Reproductive Behaviour Consortium

https://www.biorxiv.org/content/10.1101/2020.05.19.104455v1

 

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä, Joni A. Turunen, Robert Graham, Aki S. Havulinna, Markus Perola, Aarno Palotie, FinnGen,  Mark J. Daly, Manuel A. Rivas

Plos Genetics 2020, May 5: https://doi.org/10.1371/journal.pgen.1008682

 

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

Pietari Ripatti, Joel T Rämö, Nina J Mars, Yu Fu, Jake Lin, Sanni Söderlund, Christian Benner, Ida Surakka, Tuomo Kiiskinen, Aki S Havulinna, Priit Palta, Nelson B Freimer, Elisabeth Widén , Veikko Salomaa, Taru Tukiainen, Matti Pirinen, Aarno Palotie, Marja-Riitta Taskinen, Samuli Ripatti, FinnGen

Circ Genom Precis Med. 2020 Apr;13(2):e002725. doi: 10.1161/CIRCGEN.119.002725. Epub 2020 Mar 10.

 

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program; Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan

PLoS Genet. 2020 Apr 13;16(4):e1008629. doi: 10.1371/journal.pgen.1008629. eCollection 2020 Apr.

 

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers 

Nina J. Mars, Jukka T. Koskela, Pietari Ripatti, Tuomo T.J. Kiiskinen, Aki S. Havulinna, Joni V. Lindbohm, Ari Ahola-Olli, Mitja Kurki, Juha Karjalainen, Priit Palta, FinnGen, Benjamin M Neale, Mark Daly, Veikko Salomaa, Aarno Palotie, Elisabeth Widén, Samuli Ripatti

Nat Med 2020 April 7: https://www.nature.com/articles/s41591-020-0800-0

 

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

Saori Sakaue, Masahiro Kanai, Juha Karjalainen, Masato Akiyama, Mitja Kurki, Nana Matoba, Atsushi Takahashi, Makoto Hirata, Michiaki Kubo, Koichi Matsuda, Yoshinori Murakami, FinnGen, Mark J. Daly, Yoichiro Kamatani,  Yukinori Okada

Nat Med 2020 March 23: https://doi.org/10.1038/s41591-020-0785-8

 

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality 

Tuomo Kiiskinen, Nina J. Mars, Teemu Palviainen,  Jukka Koskela,  Pietari Ripatti,  Joel T. Rämö, Sanni Ruotsalainen, FinnGen, GSCAN Consortium,  Aarno Palotie, Pamela A.F. Madden, Richard J. Rose, Jaakko Kaprio, Veikko Salomaa,  Pia Mäkelä, Aki S. Havulinna, Samuli Ripatti

Transl Psychiatry 2020 Jan 21;10(1):23. http://dx.doi.org/10.1038/s41398-019-0676-2

 

2019

 

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses

Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti

Hum Genet 2019 Dec;138(11-12):1331-1340. doi: 10.1007/s00439-019-02078-6. Epub 2019 Oct 29.

 

CCR5-del32 is not deleterious in the homozygous state in humans

Preprint

Daniel Gudbjartsson, Patric Sulem, Kári Stefansson, Nina Mars, Juha Karjalainen, Samuli Ripatti, Aarno Palotie, Mark Daly

https://www.biorxiv.org/content/10.1101/788117v1

 

Genetic architecture of human plasma lipidome and its link to cardiovascular disease 

Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ, Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, Stitziel NO, Laivuori H, Havulinna AS, Service SK, Salomaa V, Pirinen M; FinnGen Project, Jauhiainen M, Daly MJ, Freimer NB, Palotie A, Taskinen MR, Simons K, Ripatti S.

Nat Commun. 2019 Sep 24;10(1):4329. doi: 10.1038/s41467-019-11954-8 

 

Exome sequencing of Finnish isolates enhances rare-variant association power 

Adam E. Locke, Karyn Meltz Steinberg, Charleston W. K. Chiang, Susan K. Service, Aki S. Havulinna, Laurel Stell, Matti Pirinen, Haley J. Abel, Colby C. Chiang, Robert S. Fulton, Anne U. Jackson, Chul Joo Kang, Krishna L. Kanchi, Daniel C. Koboldt, David E. Larson, Joanne Nelson, Thomas J. Nicholas, Arto Pietilä, Vasily Ramensky, Debashree Ray, Laura J. Scott, Heather M. Stringham, Jagadish Vangipurapu, Ryan Welch, Pranav Yajnik, Xianyong Yin, Johan G. Eriksson, Mika Ala-Korpela, Marjo-Riitta Järvelin, Minna Männikkö, Hannele Laivuori, Susan K. Dutcher, Nathan O. Stitziel, Richard K. Wilson, Ira M. Hall, Chiara Sabatti, Aarno Palotie, Veikko Salomaa, Markku Laakso, Samuli Ripatti, Michael Boehnke, Nelson B. Freimer. 

Nature, 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31.

 

The validity of heart failure diagnoses in the Finnish Hospital Discharge Register.

Vuori MA, Laukkanen JA, Pietilä A, Havulinna AS, Kähönen M, Salomaa V, Niiranen TJ; FinnGen investigators.

Scand J Public Health. 2019 May 9:1403494819847051. doi: 10.1177/1403494819847051.