A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection
University of Maryland, Baltimore · United States Department of Veterans Affairs · +3 more institutions
Abstract
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…
Citation impact
- FWCI
- 28.97
- Percentile
- 100%
- References
- 34
Authors
14- TIToni I. PollinCorresponding
University of Maryland, Baltimore, United States Department of Veterans Affairs, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine
- CDColeen Damcott
University of Maryland, Baltimore, United States Department of Veterans Affairs, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine
- HSHaiqing Shen
University of Maryland, Baltimore, United States Department of Veterans Affairs, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine
- SOSandra Ott
University of Maryland, Baltimore, United States Department of Veterans Affairs, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine
- JCJohn C. Shelton
University of Maryland, Baltimore, United States Department of Veterans Affairs, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine
Topics & keywords
- Internal medicine
- Postprandial
- Apolipoprotein B
- Endocrinology
- Cholesterol
- Null allele
- Coronary artery disease
- Cardioprotection
- Good health and well-being