FinnGen

Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.

An analysis of biobank data from the FinnGen project examines dosage effects of genetic variants on disease, andidentifies a benefit when considering more complex inheritance in the genetics of common as well as Mendelian diseases.

A new analysis of large biobanks uncovers genetic variants associated with longitudinal changes in medication for cardiometabolic diseases and presents polygenic scores of medication-use behavior.

The shared genetics between upper respiratory diseases have not been well studied. Here, the authors find shared and distinct genetic loci for pharyngeal and sinonasal inflammatory conditions, which show shared heritability with autoimmune conditions and immune deficiency, highlighting the TNFR2 pathway.

Otosclerosis is a common form of hearing loss, with an unclear genetic etiology. Here, the authors perform a genome-wide association study meta-analysis of otosclerosis identifying 27 genetic loci, pointing to genes involved in bone remodeling, skeletal disorders and transforming growth factor β signaling.

A genome-wide association study in a Finnish cohort identifies several new loci associated with varicose veins, including the connexin gene family member, GJD3, as a future druggable target.

Leinonen et al. investigate correlations between testosterone levels and disease using genetic and health registry data from the UK Biobank and FinnGen. There is a lack of evidence for normal variation in testosterone levels having a causal contribution to most non-sex-specific traits.

Immune system dysfunction has been implicated in the development of dementias, but its causal role remains unknown. Providing converging results from different lines of human research, this study by Lindbohm et al. suggests that autoimmunity may be a modifiable component in diseases causing dementia.

A new analysis combining data from large biobanks and the Global Burden of Disease study estimates that genetic risk factors significantly impact the number of healthy life years lost both at the individual and population level

The Finnish population is enriched for genetic variants which are rare in other populations. Here, the authors find new genetic loci associated with 1391 circulating metabolites in 6136 Finnish men, demonstrating that metabolite genetic associations can help elucidate disease mechanisms.

A meta-analysis combining whole-exome sequencing data from UK Biobank participants and imputed genotypes from FinnGen participants enables identification of genetic associations with human disease in the rare and low-frequency allelic spectrum

Many aging-related phenotypes share a common genetic component, but to disentangle disease-specific variants from aging-specific ones has been challenging. Here Timmers et al. combined several genetics studies of aging-related traits to identify common underlying genetic factors that contribute to aging.

This bi-ancestral genome-wide association study of major depressive disorder (MDD) identified 178 risk variants. The results advance understanding of the biology of MDD and hint at new treatment possibilities.

Using population data on genetics and diseases and estimates of disability-adjusted life years, we generated a framework for estimating the effects of genetic factors on healthy life years, similar to the risk assessment framework for traditional modifiable epidemiological risk factors. This framework will help to inform the development and implementation of genetic-based clinical applications.

Many aging-related traits share a common genetic component. How to disentangle it from trait-specific effects has remained largely unexplored. A new study in Nature Aging uses an analysis framework for isolating the shared genetic component in GWAS of aging-related traits, and identifies genomic loci that contribute to longevity.