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Common Low-Density Lipoprotein Receptor p.G116S...
Journal article

Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations

Abstract

BACKGROUND: Inuit are considered to be vulnerable to cardiovascular disease because their lifestyles are becoming more Westernized. During sequence analysis of Inuit individuals at extremes of lipid traits, we identified 2 nonsynonymous variants in low-density lipoprotein receptor (LDLR), namely p.G116S and p.R730W. METHODS AND RESULTS: Genotyping these variants in 3324 Inuit from Alaska, Canada, and Greenland showed they were common, with …

Authors

Dubé JB; Wang J; Cao H; McIntyre AD; Johansen CT; Hopkins SE; Stringer R; Hosseinzadeh S; Kennedy BA; Ban MR

Journal

Circulation Genomic and Precision Medicine, Vol. 8, No. 1, pp. 100–105

Publisher

Wolters Kluwer

Publication Date

2 2015

DOI

10.1161/circgenetics.114.000646

ISSN

1942-325X