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Proteome-wide association study using cis and trans variants and applied to blood cell and lipid-related traits in the Women's Health Initiative study.

Genetic epidemiology - 1 Oct 2024

Chen Brian D, Lee Chanhwa, Tapia Amanda L, Reiner Alexander P, Tang Hua, Kooperberg Charles, Manson JoAnn E, Li Yun, Raffield Laura M

Abstract excerpt

In most Proteome-Wide Association Studies (PWAS), variants near the protein-coding gene (±1 Mb), also known as cis single nucleotide polymorphisms (SNPs), are used to predict protein levels, which are then tested for association with phenotypes. However, proteins can be regulated through variants outside of the cis region. An intermediate GWAS step to identify protein quantitative trait loci (pQTL) allows for the...

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PMID: 38940271
DOI: 10.1002/gepi.22578

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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