Pleiotropic and sex-specific genetic mechanisms of circulating metabolic markers.

doi:10.1038/s41467-025-60058-z

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Article

Pleiotropic and sex-specific genetic mechanisms of circulating metabolic markers.

Nature communications - 28 May 2025

van der Meer Dennis, Rahman Zillur, Ottas Aigar, Parekh Pravesh, Kutrolli Gleda, Stinson Sara E, Koromina Maria, Rokicki Jaroslav, Sønderby Ida E, Parker Nadine, Tesfaye Markos, Hindley Guy, Rødevand Linn N, Koch Elise, Steen Nils Eiel, Berg Jens Petter, O'Connell Kevin S, Smeland Olav B, Frei Oleksandr, Dale Anders M, Djurovic Srdjan, Lehto Kelli, Alver Maris, Milani Lili, Shadrin Alexey A, Andreassen Ole A

Abstract excerpt

Metabolites in plasma form biosignatures of a range of common complex human diseases. Discovering variants with pleiotropic effects across metabolites can reveal underlying biological mechanisms. We therefore performed uni- and multivariate genome-wide association studies (GWAS) on 249 circulating metabolic markers across 328,006 UK Biobank and Estonian Biobank participants. We investigated rare variation through...

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PMID: 40436851
DOI: 10.1038/s41467-025-60058-z
PMCID: PMC12119811

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