Article
Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations.
Circulation. Cardiovascular genetics - 1 Feb 2015
Dubé Joseph B, Wang Jian, Cao Henian, McIntyre Adam D, Johansen Christopher T, Hopkins Scarlett E, Stringer Randa, Hosseinzadeh Siyavash, Kennedy Brooke A, Ban Matthew R, Young T Kue, Connelly Philip W, Dewailly Eric, Bjerregaard Peter, Boyer Bert B, Hegele Robert A
Abstract excerpt
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...
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