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Article

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.

American journal of human genetics - 2 Oct 2025

Baya Nikolas A, Sur Erdem Ilknur, Venkatesh Samvida S, Reibe Saskia, Charles Philip D, Navarro-Guerrero Elena, Hill Barney, Lassen Frederik H, Claussnitzer Melina, Palmer Duncan S, Lindgren Cecilia M

Abstract excerpt

Overall adiposity and body fat distribution are heritable traits associated with altered risk of cardiometabolic disease and mortality. Performing rare-variant (minor allele frequency <1%) association testing using exome-sequencing data from 402,375 participants of European ancestry in the UK Biobank for nine overall and tissue-specific fat distribution traits, we identified 19 genes where putatively damaging...

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Share to Adiposity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40912257
DOI: 10.1016/j.ajhg.2025.08.013
PMCID: PMC12696503

Genes

COL5A3
PPARG
SLTM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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