K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. Research Abstract Details 

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K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. Abstract Text:

Squalene synthase is an important component of the cholesterol biosynthetic pathway, and inhibitors of this enzyme have been shown to lower plasma cholesterol levels. Previously, we sequenced the squalene synthase gene, FDFT1 (farnesyl-diphosphate farnesyltransferase), and identified several SNPs, including a nonsynonymous variant, rs11549147:A>G (K45R). To examine the possible association of K45R with plasma lipid traits, we tested 887 individuals from 149 families from the founder population of Saguenay-Lac St. Jean (SLSJ), Quebec. K45R was associated with increased total cholesterol (TC) (P=0.035) and non-high-density lipoprotein cholesterol (non-HDL-C) (P=0.01). These results were replicated in an independent sample of unrelated individuals (P=0.0008 for TC, P=0.004 for non-HDL-C). This SNP also influenced low-density lipoprotein cholesterol (P=0.042) and HDL-C (P=0.025) in the family-based sample, and triglycerides (TG) (P=0.007) in the unrelated subjects. The lysine (K) in codon 45 is conserved across 11 mammals and lies in a potential exonic splicing enhancer (ESE) site. These results suggest that this coding variant in the squalene synthase gene influences plasma cholesterol levels, possibly by affecting the intracellular production of cholesterol.

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K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human mutation

VOLUME: 29

Page Numbers: 689-94

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 21

MONTH: May

YEAR: 2008

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. Information

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LANGUAGE: eng

NlmUniqueID: 9215429

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Grant and Affiliation Information for K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

AFFILIATION: Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

Country: United States

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MEDLINETA: Hum Mutat

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