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

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

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

The genetic architecture of human brainstem structures and their involvement in common brain disorders

Torbjørn Elvsåshagen, Shahram Bahrami, Dennis van der Meer, Ingrid Agartz, Dag Alnæs, Deanna M. Barch, Ramona Baur‐Streubel, Alessandro Bertolino, Mona Kristiansen Beyer, Giuseppe Blasi, Stefan Borgwardt, Birgitte Boye, Jan K. Buitelaar, Erlend Bøen, Elisabeth Gulowsen Celius, , Tobias Kaufmann

The paper identifies genetic loci associated with brainstem volumes and finds genetic overlaps with psychiatric and neurological disorders.

Nature Communications · Aug 11, 2020Peer-reviewedNeuroscience

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene-dose-sensitive AD-suppressor in human brain

Ivan Alić, Pollyanna Agnes Goh, Aoife Murray, Erik Portelius, Eleni Gkanatsiou, Gillian Gough, Kin Ying Mok, David Koschut, Reinhard Brunmeir, Yee Jie Yeap, Niamh Louise O’Brien, Jürgen Groet, Xiaowei Shao, Steven Havlicek, Norris Ray Dunn, , Henrik Zetterberg

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.

Molecular Psychiatry · Jul 9, 2020Peer-reviewedNeuroscience

Genetics of brain age suggest an overlap with common brain disorders

Tobias Kaufmann, Dennis van der Meer, Nhat Trung Doan, Emanuel Schwarz, Martina Jonette Lund, Ingrid Agartz, Dag Alnæs, Deanna M. Barch, Ramona Baur‐Streubel, Alessandro Bertolino, Francesco Bettella, Mona Kristiansen Beyer, Erlend Bøen, Stefan Borgwardt, Christine Lycke Brandt, , Neurocognition and Genetics Study for the Pediatric Imaging

The paper estimates brain age gaps using MRI and machine learning in individuals with and without brain disorders, finding heritability and genetic overlap with common disorders.

Nature Neuroscience · Sep 24, 2019Peer-reviewedNeuroscience