The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

doi:10.1016/j.ymgme.2016.04.007

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Article

The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular genetics and metabolism - 1 Jun 2016

Hanson Robert L, Leti Fatjon, Tsinajinnie Darwin, Kobes Sayuko, Puppala Sobha, Curran Joanne E, Almasy Laura, Lehman Donna M, Blangero John, Duggirala Ravindranath, DiStefano Johanna K

Abstract excerpt

We previously identified a locus linked to total cholesterol (TC) concentration in Pima Indians on chromosome 19p. To characterize this locus, we genotyped >2000 SNPs in 1838 Pimas and assessed association with log(TC). We observed evidence for association with log(TC) with rs2278426 (3.5% decrease/copy of the T allele; P=5.045×10(-6)) in the ANGPTL8 (angiopoietin-like 8) gene. We replicated this association in...

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Identifiers

PMID: 27117576
DOI: 10.1016/j.ymgme.2016.04.007
PMCID: PMC4880492

Genes

ANGPTL8
ANGPTL3

Provenance

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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