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Article

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.

Nature genetics - 1 Jun 2015

Li Alexander H, Morrison Alanna C, Kovar Christie, Cupples L Adrienne, Brody Jennifer A, Polfus Linda M, Yu Bing, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, Liu Xiaoming, Lumley Thomas, Mosley Thomas H, Gibbs Richard A, Boerwinkle Eric

Abstract excerpt

A typical human exome harbors dozens of loss-of-function (LOF) variants, which can lower disease risk factor levels and affect drug efficacy. We hypothesized that LOF variants are enriched in genes influencing risk factor levels and the onset of common chronic diseases, such as cardiovascular dis...

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Identifiers

PMID: 25915599
DOI: 10.1038/ng.3270
PMCID: PMC4470468

Genes

APOC3
PCSK9
TXNDC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25915599-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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