Julkaisut

Tälle sivulle keräämme kaikki tieteelliset julkaisut, joissa on hyödynnetty FinnGen-tutkimuksen aineistoja.

2021

November

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.

 

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. 

 

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

 

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

Preprint

Xianyong Yin, Lap Sum Chan, Debraj Bose, Anne U. Jackson, Peter VandeHaar, Adam E. Locke, Christian Fuchsberger, Heather M. Stringham, Ketian Yu, Lilian Fernandes Silva, Susan K. Service, Daiwei Zhang, Emily C. Hector, Erica Young, Liron Ganel, Indraniel Das, Haley Abel, Michael R. Erdos, Lori L. Bonnycastle, Johanna Kuusisto, Nathan O. Stitziel, Ira Hall, Gregory R. Wagner, FinnGen, Jian Kang, Jean Morrison, Charles F. Burant, Francis S. Collins, Samuli Ripatti, Aarno Palotie, Nelson B. Freimer, Karen L. Mohlke, Laura J. Scott, Xiaoquan Wen, Eric B. Fauman, Markku Laakso, Michael Boehnke

medRxiv 2021.10.19.21265094; doi: https://doi.org/10.1101/2021.10.19.21265094

 

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.

 

Genetic associations of protein-coding variants in human disease

Preprint

Benjamin B. Sun, Mitja I. Kurki, Christopher N. Foley, Asma Mechakra, Chia-Yen Chen, Eric Marshall, Jemma B. Wilk, Biogen Biobank Team, Mohamed Chahine, Philippe Chevalier, Georges Christé, FinnGen, Aarno Palotie, Mark J. Daly, Heiko Runz

medRxiv 2021.10.14.21265023; doi: https://doi.org/10.1101/2021.10.14.21265023

 

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

 

 

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.

 

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

 

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.

 

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

 

Comorbid-phenome prediction and phenotype risk scores enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder

Preprint

Frank R Wendt, Gita A Pathak, Joseph D Deak, Flavio De Angelis, Dora Koller, Brenda Cabrera-Mendoza, Dannielle S Lebovitch, Daniel F Levey, Murray B Stein, Henry R Kranzler, Karestan C Koenen, Joel Gelernter, Laura M Huckins, Renato Polimanti

medRxiv 2021.07.13.21260369; doi: https://doi.org/10.1101/2021.07.13.21260369

 

Genome-Wide Association Meta-Analysis Using a Recessive Model Illuminates Genetic Architecture of Type 2 Diabetes

Preprint

Mark J. O’Connor, Alicia Huerta-Chagoya, Paula Cortés-Sánchez, Silvía Bonàs-Guarch, Marta Guindo-Martínez,  Joanne B. Cole, David Torrents, Kumar Veerapen, Niels Grarup, Mitja Kurki, Carsten F. Rundsten, Oluf Pedersen, Ivan Brandslund, Allan Linneberg, Torben Hansen,  Aaron Leong, Jose C. Florez, Josep M. Mercader

medRxiv 2021.07.08.21258700; doi: https://doi.org/10.1101/2021.07.08.21258700

 

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. 

 

The role of obesity in female reproductive conditions: A Mendelian Randomisation study

Preprint

Samvida S. Venkatesh, Teresa Ferreira, Stefania Benonisdottir, Nilufer Rahmioglu, Christian M. Becker, Ingrid Granne, Krina T. Zondervan, Michael V. Holmes, Cecilia M. Lindgren, Laura B. L. Wittemans

medRxiv 2021.06.01.21257781; doi: https://doi.org/10.1101/2021.06.01.21257781

 

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.

 

GWAS and ExWAS of blood Mitochondrial DNA copy number identifies 73 loci and highlights a potential causal role in dementia

Preprint

Michael Chong, Pedrum Mohammadi-Shemirani, Nicolas Perrot, Walter Nelson, Robert W. Morton, Sukrit Narula, Ricky Lali, Irfan Khan, Mohammad Khan, Conor Judge, Tafadzwa Machipisa, Nathan Cawte, Martin O’Donnell, Marie Pigeyre, Loubna Akhabir, Guillaume Paré

medRxiv 2021.04.08.21255031; doi: https://doi.org/10.1101/2021.04.08.21255031

 

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. 

 

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. 

 

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

Preprint

Pik Fang Kho, Sally Mortlock, Endometrial Cancer Association Consortium, International Endometriosis Genetics Consortium, Peter A.W. Rogers, Dale R. Nyholt, Grant W. Montgomery, Amanda B. Spurdle, Dylan M. Glubb, Tracy A. O’Mara

medRxiv 2020.11.09.20228114; doi: https://doi.org/10.1101/2020.11.09.20228114

 

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. 

 

Genetically-proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers

Preprint

James Yarmolinsky, Virginia Díez-Obrero, Tom G Richardson, Marie Pigeyre, Jennifer Sjaarda, Guillaume Paré, Venexia M Walker, Emma E Vincent, Vanessa Y Tan, Mireia Obón-Santacana, Demetrius Albanes, Jochen Hampe, Andrea Gsur, Heather Hampel, Ellen Kampman, Rish K Pai, Mark Jenkins, Steven Gallinger, Graham Casey, Wei Zheng, Christopher I Amos, the International Lung Cancer Consortium, the PRACTICAL consortium, George Davey Smith, Richard M Martin, Victor Moreno

medRxiv 2021.03.11.21252971; doi: https://doi.org/10.1101/2021.03.11.21252971

 

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.

 

Polygenic score for physical activity provides odds for multiple common diseases

Preprint

Elina Sillanpää, Teemu Palviainen, Finn gen, Samuli Ripatti, Urho M. Kujala, Jaakko Kaprio

medRxiv 2021.02.12.21251632; doi: https://doi.org/10.1101/2021.02.12.21251632

 

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, Stephen S. Rich, John A. Todd

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

 

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

 

Analysis of UK Biobank Cohort Reveals Novel Insights for Thoracic and Abdominal Aortic Aneurysms

Preprint

Tamara Ashvetiya, Sherry X Fan, Yi-Ju Chen, Charles H Williams, Jeffery R. O’Connell, James A Perry, Charles C Hong

bioRxiv 2021.02.05.429911; doi: https://doi.org/10.1101/2021.02.05.429911

 

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

 

Genetically independent phenotype analysis identifies LPA and VCAM1 as drug targets for human ageing

Preprint

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

bioRxiv 2021.01.22.427837; doi: https://doi.org/10.1101/2021.01.22.427837

 

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.

 

Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes

Preprint

Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Paul Nioi

medRxiv 2021.01.19.21250105; doi: https://doi.org/10.1101/2021.01.19.21250105

 

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

Preprint

Heidi Hautakangas, Bendik S. Winsvold, Sanni E. Ruotsalainen, Gyda Bjornsdottir, Aster V. E. Harder, Lisette J. A. Kogelman, Laurent F. Thomas, Raymond Noordam, Christian Benner, Padhraig Gormley, Ville Artto, Karina Banasik, Anna Bjornsdottir, Dorret I. Boomsma, Ben M. Brumpton, Kristoffer Sølvsten Burgdorf, Julie E. Buring, Mona Ameri Chalmer, Irene de Boer, Martin Dichgans, Christian Erikstrup, Markus Färkkilä, Maiken Elvestad Garbrielsen, Mohsen Ghanbari, Knut Hagen, Paavo Häppölä, Jouke-Jan Hottenga, Maria G. Hrafnsdottir, Kristian Hveem, Marianne Bakke Johnsen, Mika Kähönen, Espen S. Kristoffersen, Tobias Kurth, Terho Lehtimäki, Lannie Lighart, Sigurdur H. Magnusson, Rainer Malik, Ole Birger Pedersen, Nadine Pelzer, Brenda W. J. H. Penninx, Caroline Ran, Paul M. Ridker, Frits R. Rosendaal, Gudrun R. Sigurdardottir, Anne Heidi Skogholt, Olafur A. Sveinsson, Thorgeir E. Thorgeirsson, Henrik Ullum, Lisanne S. Vijfhuizen, Elisabeth Widén, Ko Willems van Dijk, International Headache Genetics Consortium, HUNT All-in Headache, Danish Blood Donor Study Genomic Cohort, Arpo Aromaa, Andrea Carmine Belin, Tobias Freilinger, M. Arfan Ikram, Marjo-Riitta Järvelin, Olli T. Raitakari, Gisela M. Terwindt, Mikko Kallela, Maija Wessman, Jes Olesen, Daniel I. Chasman, Dale R. Nyholt, Hreinn Stefánsson, Kari Stefansson, Arn M. J. M. van den Maagdenberg, Thomas Folkmann Hansen, Samuli Ripatti, John-Anker Zwart, Aarno Palotie, Matti Pirinen

medRxiv 2021.01.20.21249647; doi: https://doi.org/10.1101/2021.01.20.21249647

 

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.

 

Association of Structural Variation with Cardiometabolic Traits in Finns

Preprint

Lei Chen, Haley J. Abel, Indraniel Das, David E. Larson, Liron Ganel, Krishna L. Kanchi, Allison A. Regier, Erica P. Young, Chul Joo Kang, Alexandra J Scott, Colby Chiang, Xinxin Wang, Shuangjia Lu, Ryan Christ, Susan K. Service, Charleston W.K. Chiang, Aki S. Havulinna, Johanna Kuusisto, Michael Boehnke, Markku Laakso, Aarno Palotie, Samuli Ripatti, Nelson B. Freimer, Adam E. Locke, Nathan O. Stitziel, Ira M. Hall

bioRxiv 2020.12.13.422502; doi: https://doi.org/10.1101/2020.12.13.422502

 

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

 

Largest GWAS (N=1,126,563) of Alzheimer’s Disease Implicates Microglia and Immune Cells

Preprint

Douglas P Wightman, Iris E Jansen, Jeanne E. Savage, Alexey A Shadrin, Shahram Bahrami, Arvid Rongve, Sigrid Børte, Bendik S Winsvold, Ole Kristian Drange, Amy E Martinsen, Anne Heidi Skogholt, Cristen Willer, Geir Bråthen, Ingunn Bosnes, Jonas Bille Nielsen, Lars Fritsche, Laurent F. Thomas, Linda M Pedersen, Maiken E Gabrielsen, Marianne Bakke Johnsen, Tore  Wergeland Meisingset, Wei Zhou, Petra Proitsi, Angela Hodges, Richard Dobson, Latha Velayudhan, 23andMe Research Team, Julia M Sealock, Lea K Davis, Nancy L. Pedersen, Chandra A. Reynolds, Ida K. Karlsson, Sigurdur Magnusson, Hreinn Stefansson, Steinunn Thordardottir, Palmi V. Jonsson, Jon Snaedal, Anna Zettergren, Ingmar Skoog, Silke Kern, Margda Waern, Henrik Zetterberg, Kaj Blennow, Eystein Stordal, Kristian Hveem, John-Anker Zwart, Lavinia Athanasiu, Ingvild Saltvedt, Sigrid B Sando, Ingun Ulstein, Srdjan Djurovic, Tormod Fladby, Dag Aarsland, Geir Selbæk, Stephan Ripke, Kari Stefansson, Ole A. Andreassen, Danielle Posthuma

medRxiv 2020.11.20.20235275; doi: https://doi.org/10.1101/2020.11.20.20235275

 

Signatures Of Tspan8 Variants Associated With Human Metabolic Regulation And Diseases

Preprint

Tisham De, Angela Goncalves, Doug Speed, Phillipe Froguel, NFBC consortium, Daniel Gaffney, Michael R. Johnson, Maarjo-Riitta Jarvelin, Lachlan JM Coin

bioRxiv 2020.11.17.386839; doi: https://doi.org/10.1101/2020.11.17.386839

 

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

 

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

Preprint

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

medRxiv 2020.11.13.20227058; doi: https://doi.org/10.1101/2020.11.13.20227058

 

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.

 

Phenome-wide HLA association landscape of 235,000 Finnish biobank participants

Preprint

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

medRxiv 2020.10.26.20219899; doi: https://doi.org/10.1101/2020.10.26.20219899

 

A global atlas of genetic associations of 220 deep phenotypes

Preprint

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Finn Gen, Kaoru Ito, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A. Rivas, Mark J. Daly, Koichi Matsuda, Yukinori Okada

medRxiv 2020.10.23.20213652; doi: https://doi.org/10.1101/2020.10.23.20213652

 

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.

 

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

Preprint

Irene V van Blokland, Pauline Lanting, Anil PS Ori, Judith M Vonk, Robert CA Warmerdam, Johanna C Herkert, Floranne Boulogne, Annique Claringbould, Esteban A Lopera-Maya, Meike Bartels, Jouke-Jan Hottenga, Andrea Ganna, Juha Karjalainen, Lifelines COVID-19 cohort study, The COVID-19 Host Genetics Initiative, Caroline Hayward, Chloe Fawns-Ritchie, Archie Campbell, David Porteous, Elizabeth T Cirulli, Kelly M Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Simon White, Francisco Tanudjaja, Xueqing Wang, Jimmy M Ramirez III, Yan Wei Lim, James T Lu, Nicole L Washington, Eco JC de Geus, Patrick Deelen, H Marike Boezen, Lude H Franke

doi: https://doi.org/10.1101/2020.08.21.20177246

 

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

 

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

Preprint

Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang,  Louise V. Wain, Richard Allen, Eleanor M. Wigmore, Kristina Ibanez, Dimitrios Vitsios, Sri VV. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, Alex Mackay, Lynne Murray, Simon Young, Carolina Haefliger, FinnGen Consortium, Toby M. Maher, Maria G. Belvisi, Gisli Jenkins,  Philip Molyneaux, Adam Platt, Slavé Petrovski

https://www.biorxiv.org/content/10.1101/2020.06.29.178079v1

 

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.