A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection by 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 in Science (New York, N.Y.) (2008).

[PMID: 19074352] PubMed


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 noncarriers had lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. Subclinical atherosclerosis, as measured by coronary artery calcification, was less common in carriers than noncarriers, which suggests that lifelong deficiency of apoC-III has a cardioprotective effect.

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