Article
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
Science (New York, N.Y.) - 12 Dec 2008
Pollin Toni I, Damcott Coleen M, Shen Haiqing, Ott Sandra H, Shelton John, Horenstein Richard B, Post Wendy, McLenithan John C, Bielak Lawrence F, Peyser Patricia A, Mitchell Braxton D, Miller Michael, O'Connell Jeffrey R, Shuldiner Alan R
Abstract excerpt
Apolipoprotein C-III (apoC-III) inhibits triglyceride hydrolysis and has been implicated in coronary artery disease. Through a genome-wide association study, we have found that about 5% of the Lancaster Amish are heterozygous carriers of a null mutation (R19X) in the gene encoding apoC-III (APOC3) and, as a result, express half the amount of apoC-III present in noncarriers. Mutation carriers compared with...
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