Publication Date:
2008-12-17
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673993/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673993/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- M01 RR 000052/RR/NCRR NIH HHS/ -- M01 RR 16500/RR/NCRR NIH HHS/ -- M01 RR000052-38/RR/NCRR NIH HHS/ -- M01 RR016500/RR/NCRR NIH HHS/ -- M01 RR016500-01/RR/NCRR NIH HHS/ -- M01 RR016500-02/RR/NCRR NIH HHS/ -- M01 RR016500-03/RR/NCRR NIH HHS/ -- M01 RR016500-030010/RR/NCRR NIH HHS/ -- M01 RR016500-04/RR/NCRR NIH HHS/ -- P30 DK072488/DK/NIDDK NIH HHS/ -- P30 DK072488-01/DK/NIDDK NIH HHS/ -- P30 DK072488-019001/DK/NIDDK NIH HHS/ -- P30 DK072488-029001/DK/NIDDK NIH HHS/ -- P30 DK072488-039001/DK/NIDDK NIH HHS/ -- P30 DK072488-049001/DK/NIDDK NIH HHS/ -- R01 AG018728/AG/NIA NIH HHS/ -- R01 AG018728-01A1/AG/NIA NIH HHS/ -- R01 AG018728-02/AG/NIA NIH HHS/ -- R01 AG018728-02S1/AG/NIA NIH HHS/ -- R01 AG018728-03/AG/NIA NIH HHS/ -- R01 AG018728-03S1/AG/NIA NIH HHS/ -- R01 AG018728-04/AG/NIA NIH HHS/ -- R01 AG018728-05/AG/NIA NIH HHS/ -- R01 AG018728-05S1/AG/NIA NIH HHS/ -- R01 AG18728/AG/NIA NIH HHS/ -- R01 AR046838/AR/NIAMS NIH HHS/ -- R01 AR046838-01/AR/NIAMS NIH HHS/ -- R01 AR046838-02/AR/NIAMS NIH HHS/ -- R01 AR046838-03/AR/NIAMS NIH HHS/ -- R01 AR046838-04/AR/NIAMS NIH HHS/ -- R01 AR046838-05/AR/NIAMS NIH HHS/ -- R01 HL088119/HL/NHLBI NIH HHS/ -- R01 HL088119-01/HL/NHLBI NIH HHS/ -- R01 HL088119-02/HL/NHLBI NIH HHS/ -- U01 HL072515/HL/NHLBI NIH HHS/ -- U01 HL072515-01/HL/NHLBI NIH HHS/ -- U01 HL072515-02/HL/NHLBI NIH HHS/ -- U01 HL072515-03/HL/NHLBI NIH HHS/ -- U01 HL072515-04/HL/NHLBI NIH HHS/ -- U01 HL072515-05/HL/NHLBI NIH HHS/ -- U01 HL072515-06/HL/NHLBI NIH HHS/ -- U01 HL084756/HL/NHLBI NIH HHS/ -- U01 HL084756-01/HL/NHLBI NIH HHS/ -- U01 HL084756-02/HL/NHLBI NIH HHS/ -- U01 HL084756-03/HL/NHLBI NIH HHS/ -- U01 HL72515/HL/NHLBI NIH HHS/ -- New York, N.Y. -- Science. 2008 Dec 12;322(5908):1702-5. doi: 10.1126/science.1161524.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA. tpollin@medicine.umaryland.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19074352" target="_blank"〉PubMed〈/a〉
Keywords:
Adult
;
Apolipoprotein C-III/blood/*genetics
;
Cholesterol/blood
;
Cholesterol, HDL/*blood
;
Cholesterol, LDL/*blood
;
Christianity
;
Coronary Artery Disease/genetics/*prevention & control
;
Dietary Fats/administration & dosage
;
Fasting
;
Female
;
Genome-Wide Association Study
;
Haplotypes
;
Heterozygote
;
Humans
;
Linkage Disequilibrium
;
Lipids/*blood
;
Male
;
Middle Aged
;
*Mutation
;
Pedigree
;
Pennsylvania
;
Polymorphism, Single Nucleotide
;
Risk Factors
;
Triglycerides/*blood
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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