FinnGen

Helsingin yliopisto on tunnistanut neljä tutkimuksen kärkeä – monitieteinen huippututkimus kohtaa aikamme suuret haasteet | Helsingin yliopisto Helsingin yliopisto on tunnistanut neljä tutkimuksen kärkeä, jotka kokoavat yhteen yliopiston tutkimuksen vahvuudet. Kärjet yhdistävät ihmis-, elämän- ja luonnontieteellistä huippututkimusta ja vastaavat aikamme keskeisiin haasteisiin.

Tutkimuksemme kärjet ovat Tulevaisuuden teknologiat, Oppivat ja muuntuvat yhteiskunnat, Yksilöllinen terveys ja Kestävä planeetta.
www.helsinki.fi/fi/uutiset/y...

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk - Nature Genetics Genome-wide analyses identify 418 independent associations with autoimmune hypothyroidism and classify risk loci into distinct groupings related to systemic autoimmunity and thyroid-specific dysfuncti...

The study, led by researchers at @fimm-uh.bsky.social and @broadinstitute.org, identified more than 400 genetic variants associated with autoimmune hypothyroidism, the most common autoimmune disease. Read the full paper here:
www.nature.com/articles/s41...

Study reveals genetic balancing act between autoimmunity and cancer risk Researchers pinpoint genetic factors linked to both higher risk of a common autoimmune disorder and lower cancer risk

Large-scale FinnGen-based study by Reeve et al., just published in Nature Genetics, provides the most detailed genetic map of autoimmune hypothyroidism to date and reveals a surprising inverse relationship between hypothyroidism risk and skin cancer risk.
www.broadinstitute.org/news/study-r...

Verenluovuttajat saivat ensimmäistä kertaa tietoa perinnöllisestä sairausriskistä Suomen Punaisen Ristin Veripalvelun biopankista palautettiin tietoa riskistä sairastua hemokromatoosiin eli tautiin, jossa elimistöön kerääntyy liikaa rautaa.

Tiesitkö, että FinnGen-tutkimuksessa tuotettu genomitieto on palautettu takaisin näytteen toimittaneeseen biopankkiin? Veripalvelun biopankissa on pilotoitu tähän tietoon perustuen hemokromatoosin riskitiedon palauttamista biopankkiin kuuluville verenluovuttajille:
www.veripalvelu.fi/verenluovutt...

New research sheds light on the biological roots of anxiety | King's College London The largest genetic study of anxiety disorders to date has identified 58 genetic variants associated with anxiety, most of which have not been identified before now.

The analysis highlighted the role of several genes involved in GABAergic signaling; a key system that regulates brain activity. Read more about the findings from King's College London's press release:
www.kcl.ac.uk/news/new-res...

A promotional graphic announcing a new scientific publication from FinnGen. The center shows the title page of an article from Nature Genetics titled “Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling”. On top, a blue banner reads “New Publication.” The bottom right features the FinnGen logo—a stylized DNA helix—and the word “FinnGen.” Citation details appear at the bottom of the image.

The largest genetic study of anxiety disorders to date has identified 58 genetic variants associated with anxiety. The research, published in Nature Genetics, was based on data from >120,000 individuals with anxiety disorders, from various cohorts, including FinnGen.
www.nature.com/articles/s41...

🌍 On #WorldCancerDay we recognise those in the BBMRI-ERIC community working to advance cancer research.

🔬 In our first post, we looked at EU projects. Let's turn the spotlight on the researchers & biobankers driving cancer innovation - The teams behind the data, discoveries & breakthroughs.

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Kokoukseen paikan päällä Biomedicumissa osallistuneiden henkilöiden ryhmäkuva.

FinnGenin suomalaisten partnerien edustajat tapasivat eilen Biomedicumissa Helsingissä ja etäyhteyden välityksellä. Kiitos kaikille osallistujille aktiivisuudesta tutkimuksen seuraavan vaiheen suunnittelussa!

Mark Daly presenting in a full lecture room.

This week, Aarno Palotie and Mark Daly are visiting our Finnish partner organisations presenting what FinnGen has achieved and discussing how to develop it in the future. Great that the seminars, organised with help from the analysts that support FinnGen locally, have turned out to be popular!

New study finds distinct genetic risk factors for infection with the Omicron variant of the coronavirus Genetic differences may influence the risk of infection with the highly transmissible Omicron variant, and the patterns differ from earlier coronavirus variants, according to a new large international...

We've been contributing to an international study identifying 13 genetic markers associated with infection with the Omicron variant of the coronavirus. The study, led by Statens Serum Institut, was recently published in Nature Genetics:
🔗 www.nature.com/articles/s41...
🔗 en.ssi.dk/news/news/20...

New preprint 👇

Does diagnostic misclassification in EHR-based psychiatry GWAS suppress genetic discovery?

We use simulations and FinnGen data to expand the SuperControl framework and propose a new ML approach (PRISMA) to boost signal discovery.

Led by Lisa Eick & Zhiyu Yang!

Season’s Greetings card with a blue background and festive starbursts, featuring a Helsinki city skyline stylized to resemble a Manhattan plot. Text reads: ‘Season’s Greetings. Wishing you a happy holiday season, and many thanks for a great year together!’ The FinnGen logo appears above the skyline.”

On behalf of all of us in FinnGen team, we wish you Happy Holidays and a wonderful New Year full of exciting scientific discoveries!
Thank you for being part of the FinnGen community and for helping move this effort forward together. 🧬❄️

Kindly note that the URLs for our publicly available meta-analysis result browsers have been updated.

The browsers are now accessible at:

➡️FinnGen + pan-UKBB meta-analysis results: public-metaresults-fg-ukbb.finngen.fi

➡️FinnGen-MVP-UKBB meta-analysis results: public-mvp-ukbb.finngen.fi

Complex genetic effects linked to plasma protein abundance in the UK Biobank.
Sigurdsson AI, Gräf JF, Yang Z, Ravn K, Meisner J, Thielemann R, ... ; FinnGen; Vilhjalmsson B, Neale BM, Holm JC, Ganna A, Hansen T, Loos RJF, Rasmussen S.
Nat Commun. 2025 Dec 14.
www.nature.com/articles/s41...

GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension | Hypertension BACKGROUND: Resistant hypertension (RH), in which blood pressure remains elevated on ≥3 medications or controlled on ≥4 medications, increases the risk of adverse cardiovascular events nearly 50% more...

GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension.
Ebinger JE, Kauko A, Vaura F, Hage P, Sundström J, Joung SY, Cheng S, Niiranen T; FinnGen.
Hypertension. 2025 Dec 17:10.1161/HYPERTENSIONAHA.125.25719.
www.ahajournals.org/doi/10.1161/...

Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals.
Molotkov I, Kurki M; FinnGen; Palotie A, Daly MJ, Artomov M. Nat Commun. 2025 Dec 13.
www.nature.com/articles/s41...

Genetic liability to psoriasis predicts severe disease outcomes - Genome Medicine Background Psoriasis is a common inflammatory skin disease with heterogeneous presentation. Up to 30% of individuals have severe disease with a greater surface area of skin involvement, co-morbidity b...

Genetic liability to psoriasis predicts severe disease outcomes.
Saklatvala JR, Lessard S, Teder-Laving M, Thomas LF, Ramessur R, Zierer J, et al.
Genome Med. 2025 Dec 17.
link.springer.com/article/10.1...

Impact of Preeclampsia Duration on Long-Term Cardiovascular Disease Risk | Hypertension BACKGROUND: Preeclampsia is associated with increased risk of subsequent maternal cardiovascular diseases (CVD) compared with normotensive pregnancies. We examined whether prolonging the duration betw...

Impact of Preeclampsia Duration on Long-Term Cardiovascular Disease Risk
Keitaanpää N, Tyrmi JS, Toivonen E, Huhtala H, Kivelä A, Heinonen S, Jääskeläinen T, Laivuori H; FINNPEC Core Investigator Group, FinnGen. Hypertension. 2025 Nov 18.
www.ahajournals.org/doi/10.1161/...

Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression - Nature Genetics Genome-wide association analyses leveraging Nordic biobanks with longitudinal health registries identify differences in the genetic architectures of early-onset and late-onset major depressive disorde...

Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression
Shorter JR, Pasman JA, Kurvits S, Jangmo A, Naamanka J, Harder A, Hagen E et al.
Nat Genet. 2025 Nov 13.
www.nature.com/articles/s41...

131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma - Nature Communications Shared heritability between asthma and rhinosinusitis has not been extensively explored. Here the authors find that genetic loci shared between asthma and chronic rhinosinusitis highlight Jak-STAT sig...

131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.
Saarentaus EC, Fischer-Rasmussen K, Sliz E, ..., Toppila-Salmi S, Kankaanranta H, Kettunen J, Bønnelykke K, Palotie A, Mäkitie A.
Nat Commun. 2025 Nov 10;16(1):9879.
www.nature.com/articles/s41...

Validity of telephone-administered word list learning measures for assessment of episodic memory in aging and Alzheimer's disease.
Saari TT, Aaltonen A, Lohi K, ... , Palotie A, Runz H, Julkunen V, Kaprio J, Vuoksimaa E; FinnGen.
Neuropsychology. 2025 Nov 6.
psycnet.apa.org/fulltext/202...

Genetic associations with educational fields - Nature Genetics Genome-wide analyses of 10 educational fields identify 17 associated loci. Analysis of genetic clustering across specializations identifies two key dimensions that show genetic overlap with personalit...

Genetic associations with educational fields.
Cheesman R, Anapaz V, van Alten S, Abdellaoui A, Porneso R, Ebeltoft JC, Ayorech Z, Demange PA, Eilertsen EM, Fauske A, Havdahl A, Lahtinen H, Lyngstad TH, Qin Q; FinnGen; Ganna A, Ystrom E.
Nat Genet. 2025 Nov 4.
www.nature.com/articles/s41...

Limited overlap between genetic effects on disease susceptibility and disease survival - Nature Genetics Systematic comparison of genome-wide association results for disease risk and disease-specific mortality for nine common diseases across seven biobanks finds limited overlap between genetic effects on...

Limited overlap between genetic effects on disease susceptibility and disease survival.
Yang Z, Pajuste FD, Zguro K, ..., Paschou P, Heyne H, Ripatti S, Mars N, Ganna A.
Nat Genet. 2025 Oct;57(10):2418-2426.
www.nature.com/articles/s41...

Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores - Nature Genetics Comparison of electronic health record-based phenotype risk scores (PheRS) and polygenic scores (PGS) across 13 common diseases and three biobank-based studies indicates that PheRS and PGS may provide...

Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores.
Detrois KE, Hartonen T, ... ; FinnGen; Mägi R, Ripatti S, Ganna A.
Nat Genet. 2025 Sep;57(9):2136-2145.
www.nature.com/articles/s41...

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank We examined disease associations for sex chromosome trisomies (SCTs) by performing a phenome-wide association study in 2,769 individuals with SCT (47,XXY: 1,319; 47,XYY: 1,108; and 47,XXX: 342). Many ...

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.
Davis SM, Liu A, Teerlink CC, Lapato DM et al.
Am J Hum Genet. 2025 Sep 4;112(9):2088-2101. doi: 10.1016/j.ajhg.2025.07.017.
www.cell.com/ajhg/fulltex...

Cardiorenal Interorgan Assessment via a Novel Clustering Method Using Dynamic Time Warping on Electrocardiogram: Model Development and Validation Study Background: The heart and kidneys have vital functions in the human body that reciprocally influence each physiologically and pathological changes in one organ can damage the other. Epidemiologic stud...

Cardiorenal Interorgan Assessment via a Novel Clustering Method Using Dynamic Time Warping on Electrocardiogram: Model Development and Validation Study.
Zhao S, Ye Z, Adhin B, Vuori M, Laukkanen J; FinnGen; Fisch S.
JMIR Med Inform. 2025 Aug 12;13:e73353.
medinform.jmir.org/2025/1/e73353

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty - Nature Aging To better understand the etiology of frailty, the authors perform a large genetic study. They identified 45 additional variants and implicated MET, CHST9, ILRUN, APOE, CGREF1 and PPP6C as potential ca...

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty.
Mak JKL, Qin C, Krüger M, Kuukka A; FinnGen; Hägg S, Lin J, Jylhävä J.
Nat Aging. 2025 Aug;5(8):1589-1600.
www.nature.com/articles/s43...

Autumn semester publication wrap-up! 📄
This autumn, FinnGen researchers contributed to a remarkable set of papers across human genetics, medicine, and methods; spanning @natgenet.nature.com, @natcomms.nature.com, Hypertension, @ajhgnews.bsky.social and more.

Here’s a 🧵 highlighting these studies ⬇️

A recruitment graphic for the FinnGen project. On the left is the FinnGen logo, featuring a stylized DNA helix in grey and blue with the word “FINNGEN” beneath it. On the right, bold black text reads “SOFTWARE DEVELOPER” and below it “FOR THE FINNGEN PROJECT.” Under that are the logos of FIMM (Institute for Molecular Medicine Finland, HiLIFE Unit) and the University of Helsinki. At the bottom, large text says “APPLY BY 30 JAN.”

We are looking for a Software Developer to join our international team in Finland! With us, you will gain invaluable experience in high-impact software solutions that empower researchers to analyse and visualise extensive genomic and health data. Apply by 30 Jan:
jobs.helsinki.fi/job/Helsinki...

Excited to share our new FinnGen single-nucleus multiome preprint! 🧬

We profiled ~10M PBMCs (snRNA-seq + snATAC-seq) from 1,108 Finnish donors to map how genetic variants drive complex disease through chromatin and gene regulation 🧵👇
🔗 Link: www.medrxiv.org/content/10.1...