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Article

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.

Nature genetics - 1 Mar 2022

Jurgens Sean J, Choi Seung Hoan, Morrill Valerie N, Chaffin Mark, Pirruccello James P, Halford Jennifer L, Weng Lu-Chen, Nauffal Victor, Roselli Carolina, Hall Amelia W, Oetjens Matthew T, Lagerman Braxton, vanMaanen David P, Aragam Krishna G, Lunetta Kathryn L, Haggerty Christopher M, Lubitz Steven A, Ellinor Patrick T

Abstract excerpt

Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations, with broad replication of novel signals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35177841
DOI: 10.1038/s41588-021-01011-w
PMCID: PMC8930703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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