Details

Autor(en) / Beteiligte

• 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

Titel

Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

Ist Teil von

• Science (American Association for the Advancement of Science), 2008-12, Vol.322 (5908), p.1702-1705

Ort / Verlag

Washington, DC: American Association for the Advancement of Science

Erscheinungsjahr

2008

Link zum Volltext

Quelle

American Association for the Advancement of Science

Beschreibungen/Notizen

• 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.