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

2021

September

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.
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. 2022 Jul 1;32(4):736-740. doi: 10.1093/mr/roab052.

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. 2022 Mar;149(3):1105-1112.e9. doi: 10.1016/j.jaci.2021.07.043.
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
Sliz E, Tyrmi J, Rahmioglu N, Zondervan KT, Becker CM, FinnGen, Uimari O, Kettunen J.
Nat Commun. 2023 Feb 1;14(1):542. doi: 10.1038/s41467-023-35974-7.
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.
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis
Yuan S, Larsson SC.
Mol Genet Metab. 2021 Sep-Oct;134(1-2):212-215. doi: 10.1016/j.ymgme.2021.08.010.
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.
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.
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 Dec;80(12):1530-1536. 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 Jun;24(3):145-154. doi: 10.1017/thg.2021.27.

July

Assessing the role of cortisol in cancer: a wide-ranged Mendelian randomisation study
Larsson SC, Lee WH, Kar S, Burgess S, Allara E.
Br J Cancer. 2021 Sep;125(7):1025-1029. doi: 10.1038/s41416-021-01505-8.
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.
Genetically Predicted Fibroblast Growth Factor 23 and Major Cardiovascular Diseases, Their Risk Factors, Kidney Function, and Longevity: A Two-Sample Mendelian Randomization Study
Liang Y, Luo S, Schooling CM, Au Yeung SL.
Front Genet. 2021 Jul 23;12:699455. doi: 10.3389/fgene.2021.699455. Erratum in: Front Genet. 2021 Nov 11;12:794246.
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
McArthur E, Rinker DC, Capra JA.
Nat Commun. 2021 Jul 22;12(1):4481. doi: 10.1038/s41467-021-24582-y.
Obesity, Type 2 Diabetes, and the Risk of Carpal Tunnel Syndrome: A Two-Sample Mendelian Randomization Study
Mi J, Liu Z.
Front Genet. 2021 Jul 22;12:688849. doi: 10.3389/fgene.2021.688849.
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.
The shared genetic basis of mood instability and psychiatric disorders: A cross-trait genome-wide association analysis
Hindley G, O'Connell KS, Rahman Z, Frei O, Bahrami S, Shadrin A, Høegh MC, Cheng W, Karadag N, Lin A, Rødevand L, Fan CC, Djurovic S, Lagerberg TV, Dale AM, Smeland OB, Andreassen OA.
Am J Med Genet B Neuropsychiatr Genet. 2022 Sep;189(6):207-218. doi: 10.1002/ajmg.b.32907.
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.
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 Aug;14(4):e003283. doi: 10.1161/CIRCGEN.120.003283.
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism
Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Butler L, Deleuze J-F, Odeberg J, Morange P-E, Trégouët D-A.
Sci Rep 11, 14015 (2021). https://doi.org/10.1038/s41598-021-93390-7
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.

June

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.
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.
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.
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.
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 Aug 16;89(3):435-442. doi: 10.1093/neuros/nyab184.
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 Jul 1;139(7):762-768. doi: 10.1001/jamaophthalmol.2021.1610.

May

Genetically predicted circulating vitamin C in relation to cardiovascular disease
Yuan S, Zheng JS, Mason AM, Burgess S, Larsson SC.
Eur J Prev Cardiol. 2022 Jan 11;28(16):1829-1837. doi: 10.1093/eurjpc/zwab081.
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 Jul;24(7):954-963. 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. 2022 Jan;53(1):43-50. doi: 10.1007/s11239-021-02494-4.
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.
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.
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Chiou J, Geusz RJ, Okino ML, Han JY, Miller M, Melton R, Beebe E, Benaglio P, Huang S, Korgaonkar K, Heller S, Kleger A, Preissl S, Gorkin DU, Sander M, Gaulton KJ.
Nature. 2021 Jun;594(7863):398-402. doi: 10.1038/s41586-021-03552-w.
Taxonomic signatures of cause-specific mortality risk in human gut microbiome
Salosensaari A, Laitinen V, Havulinna AS, Meric G, Cheng S, Perola M, Valsta L, Alfthan G, Inouye M, Watrous JD, Long T, Salido RA, Sanders K, Brennan C, Humphrey GC, Sanders JG, Jain M, Jousilahti P, Salomaa V, Knight R, Lahti L, Niiranen T.
Nat Commun 12, 2671 (2021). https://doi.org/10.1038/s41467-021-22962-y
Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection
Koskela JT, Häppölä P, Liu A, FinnGen, Partanen J, Genovese G, Artomov M, Myllymäki MNM, Kanai M, Zhou W, Karjalainen JM, Palviainen T, Ronkainen J, Sebert S, Tukiainen T, Palta P, Kaprio J, Kurki M, Ganna A, Palotie A, Laitinen T, Myllärniemi M, Daly MJ.
medRxiv 2021.05.07.21255988; doi: https://doi.org/10.1101/2021.05.07.21255988.
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; FinnGen, Palotie A, Palotie T, Ripatti S.
Eur Respir J. 2021 May 6;57(5):2003091. doi: 10.1183/13993003.03091-2020.
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. 2021 May;40(5):3332-3337. doi: 10.1016/j.clnu.2020.11.004.
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.

April

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.
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.
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. 2021 Apr 23;12(1):2436. doi: 10.1038/s41467-021-21952-4.
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 May;53(5):663-671. doi: 10.1038/s41588-021-00846-7.
Role of immune cells in mediating the effect of triacylglycerol (50:2) on hypotension
Weiye Lin, Ning Han, Qianran Hong, Jiayang Li, Yiqian Qu, Yuting He, Shengliang Qiu
Researchsquare, 21 April 2024, doi: 10.21203/rs.3.rs-4232038/v1
Genome-Wide Polygenic Risk Score Identifies Individuals at Elevated Parkinson’s Disease Risk
Han Y, Teeple E, Shankara S, Sadeghi M, Zhu C, Liu D, - FinnGen, Wang C, Frau F, Klinger K, Madden S, Rajpal D, Sardi P, Kumar D.
Neurology Apr 2021, 96 (15 Supplement) 4286;
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.
Cardiometabolic risks of SARS-CoV-2 hospitalization using Mendelian Randomization
Lorincz-Comi N, Zhu X.
Sci Rep. 2021 Apr 12;11(1):7848. doi: 10.1038/s41598-021-86757-3.
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.
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 Jun;124(12):1997-2003. doi: 10.1038/s41416-021-01383-0.