Publications

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

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

 

Genome-wide association study identifies five risk loci for pernicious anemia and implicates the role of HLA-DR15 haplotype

Preprint

Triin Laisk, Maarja Lepamets, Reedik Mägi

doi: https://doi.org/10.1101/2020.10.13.20211912

 

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 et al. 

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

 

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

Preprint


Satu Strausz, Sanni E Ruotsalainen, Hanna M Ollila, Juha Karjalainen, Mary Reeve, Mitja Kurki, Nina Mars, Aki S Havulinna, Tuomo Kiiskinen, Dina Mansour Aly, Emma Ahlqvist, Maris Teder-Laving, Priit Palta, Leif Groop, Reedik Magi, Antti Makitie, Veikko Salomaa, Adel Bachour, Tiinamaija Tuomi, Aarno Palotie, Tuula Palotie, Samuli Ripatti

https://www.biorxiv.org/content/10.1101/2020.08.04.235994v1

 

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

https://www.medrxiv.org/content/10.1101/2020.07.19.20157404v2

 

A Trans-Omic Mendelian Randomization Study of Parental Lifespan Uncovers Novel Aging Biology and Drug Candidates for Human Healthspan Extension

Preprint

Nicolas Perrot, William Pelletier, Jerome Bourgeault, Christian Couture, Zhonglin Li, Patricia Mitchell, Nooshin Ghodsian, Yohan Bosse, Sebastien Theriault, Patrick Mathieu, Benoit J Arsenault

https://www.medrxiv.org/content/10.1101/2020.07.06.20147520v1

 

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

 

Genetic susceptibility to pneumonia: A GWAS meta-analysis between UK Biobank and FinnGen

Preprint


Adrian Campos, Pik Fang Kho, Karla Ximena Vazquez-Prada, Luis M Garcia-Marin, Nicholas G Martin, Gabriel Cuellar-Partida,  Miguel E. Renteria

https://www.medrxiv.org/content/10.1101/2020.06.22.20103556v1

 

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

Preprint

Pyry Helkkula, Tuomo Kiiskinen, Aki S. Havulinna, Juha Karjalainen, Seppo Koskinen, Veikko Salomaa, FinnGen, Mark J. Daly, Aarno Palotie, Ida Surakka, Samuli Ripatti

https://www.medrxiv.org/content/10.1101/2020.06.09.20125278v1

 

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

 

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

 

GWAS of Depression Phenotypes in the Million Veteran Program and Meta-analysis in More than 1.2 Million Participants Yields 178 Independent Risk Loci

Preprint

Daniel F Levey, Murray B Stein, Frank R Wendt, Gita A Pathak, Hang Zhou, Mihaela Aslan, Rachel Quaden, Kelly M Harrington, Gerard Sanacora, Andrew M McIntosh, John Concato, Renato Polimanti, Joel Gelernter, on behalf of the Million Veteran Program

https://www.medrxiv.org/content/10.1101/2020.05.18.20100685v2

 

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

Preprint

Marta Guindo-Martínez, Ramon Amela, Silvia Bonàs-Guarch, Montserrat Puiggròs, Cecilia Salvoro, Irene Miguel-Escalada, Caitlin E Carey, Joanne B. Cole, Sina Rüeger, Elizabeth Atkinson, Aaron Leong, Friman Sanchez, Cristian Ramon-Cortes, Jorge Ejarque, Duncan S Palmer, Mitja Kurki, FinnGen Consortium, Krishna Aragam, Jose C Florez, Rosa M. Badia, Josep M. Mercader, David Torrents

https://www.biorxiv.org/content/10.1101/2020.05.12.084608v1

 

Polygenic risk, susceptibility genes, and breast cancer over the life course

Preprint

Nina Mars, Elisabeth Widen, Sini Kerminen, Tuomo Meretoja, Matti Pirinen, Priit Palta, FinnGen, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly, Samuli Ripatti

doi: https://doi.org/10.1101/2020.04.17.20069229

 

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

 

Genetic analyses identify widespread sex-differential participation bias

Preprint

Nicola Pirastu, Mattia Cordioli, Priyanka Nandakumar, Gianmarco Mignogna, Abdel Abdellaoui, Benjamin Hollis, Masahiro Kanai, Veera M. Rajagopal, Pietro Della Briotta Parolo, Nikolas Baya, Caitlin Carey, Juha Karjalainen, Thomas D. Als, Matthijs D. Van der Zee, Felix R. Day, Ken K. Ong, Finngen Study, Me Research Team, Consortium iPSYCH, Takayuki Morisaki, Eco de Geus, Rino Bellocco, Yukinori Okada, Anders D. Børglum, Peter Joshi, Adam Auton, David Hinds, Benjamin M. Neale, Raymond K. Walters, Michel G. Nivard, John R.B. Perry, Andrea Ganna

https://www.biorxiv.org/content/10.1101/2020.03.22.001453v1

 

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease

Preprint

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet Segre, Robert P. Igo Jr, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N. Cooke Bailey, Pieter Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri Young, Veronique Vitart, Alberta A.H.J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen (CUHK), Ching-Yu Cheng, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23andMe Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, John Rouhana, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichito Kamatani, Masato Akiama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae Hee Kang, Calvin Chi Pui Pang (CUHK), Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan Haines, Chris Hammond, Louis R. Pasquale, Caroline C.W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Tin Aung, Jamie Craig, Stuart MacGregor, Janey Wiggs

https://www.biorxiv.org/content/10.1101/2020.01.30.927822v1

 

Cancer PRSweb – an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks

Preprint

Lars G. Fritsche, Snehal Patil,  Lauren J. Beesley, Peter VandeHaar, Maxwell Salvatore, Robert B. Peng, Daniel Taliun, Xiang Zhou, Bhramar Mukherjee

https://www.biorxiv.org/content/10.1101/2020.01.22.915751v2

 

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

 

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.

 

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

Preprint

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

https://www.biorxiv.org/content/10.1101/867267v1

 

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.

 

Genetics of 38 blood and urine biomarkers in the UK Biobank

Preprint

Nasa Sinnott-Armstrong, Yosuke Tanigawa, David Amar, Nina J. Mars, Matthew Aguirre, Guhan Ram Venkataraman, Michael Wainberg, Hanna M. Ollila, James P. Pirruccello, Junyang Qian, Anna Shcherbina, FinnGen, Fatima Rodriguez, Themistocles L. Assimes, Vineeta Agarwala, Robert Tibshirani, Trevor Hastie, Samuli Ripatti, Jonathan K. Pritchard, Mark J. Daly, Manuel A. Rivas

https://www.biorxiv.org/content/10.1101/660506v1

 

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.