This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

Nature Aging · Aug 5, 2025Peer-reviewedGenetic & Genomic Medicine

High-resolution integrative analysis allows characterization and spatial annotation of normal and cancer-associated colon fibroblasts

Emma W Viitala, Ella S. Salminen, Mitro Miihkinen, Niki Chalkidi, Athanasia Stavropoulou, Toni T Lemmetyinen, Pekka Päivinen, Tuomas Kaprio, Jaana Hagström, Caj H. Haglund, Tomi P. Mäkelä, Tero A. Aittokallio, Pekka Katajisto, Vasiliki Koliaraki, Saara Ollila

This study characterizes and spatially annotates normal and cancer-associated colon fibroblasts using single-cell RNA-sequencing and spatial transcriptomics.

bioRxiv · Jul 29, 2025 · PreprintCancer Biology

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Ville Salo, Juhani H. Määttä, Eeva Sliz, FinnGen, Aarno V. Palotie, Mark J. Daly, Bridget Riley-Gills, Howard J. Jacob, Dirk S. Paul, Slavé Petrovski, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, , Jukka T. Koskela

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

Nature Communications · Nov 7, 2024Peer-reviewedGenetic & Genomic Medicine

A FinnGen pilot clinical recall study for Alzheimer's disease

Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen, Aino‐Kaisa Piironen, Arto Mannermaa, Hanna Kujala, T. Laitinen, Veli‐Matti Kosma, Teemu I. Paajanen, Reetta K. Kälviäinen, Mikko Hiltunen, Sanna‐Kaisa Herukka, Sari Kärkkäinen, Tarja Kokkola, , Zhihao Ding

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Scientific Reports · Aug 3, 2023Peer-reviewedGenetic & Genomic Medicine

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

Jaakko S. Tyrmi, Tea Kaartokallio, Anna Inkeri Lokki, Tiina J. Jääskeläinen, Eija Kortelainen, Sanni Ruotsalainen, Juha M Karjalainen, Samuli Ripatti, Anna Kivioja, Triin Laisk, Johannes Kettunen, Anneli M. Pouta, Katja Kivinen, Eero Kajantie, Seppo T Heinonen, , Arto Mannermaa

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

JAMA Cardiology · Jun 7, 2023Peer-reviewedGenetic & Genomic Medicine

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

Sanni Ruotsalainen, Juulia Partanen, Anna Cichońska, Jake Lin, Christian Benner, Ida L. Surakka, FinnGen, Aarno Palotie, Mark J. Daly, Pharmaceutical companies, Howard J. Jacob, Athena Matakidou, Heiko Runz, Sally John, Robert M. Plenge, , Kari Linden

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

European Journal of Human Genetics · Oct 27, 2020Peer-reviewedGenetics

Ciliary signaling-patterned smooth muscle drives tubular elongation

Yang Ying, Pekka Päivinen, Chang Xie, Alexis Leigh Krup, Tomi P. Mäkelä, Keith E. Mostov, Jeremy F. Reiter

This study shows that ciliary signaling patterns smooth muscle, which generates mechanical forces that activate YAP to drive longitudinal growth in the developing esophagus and small intestine.

bioRxiv · Aug 31, 2020 · PreprintDevelopmental Biology