Skip Navigation LinksHome > October 2012 - Volume 60 - Issue 7 > Mutation Screening of the APOA5 Gene in Subjects With Corona...
Journal of Investigative Medicine:
doi: 10.231/JIM.0b013e3182686918
Original Articles

Mutation Screening of the APOA5 Gene in Subjects With Coronary Artery Disease

Soufi, Muhidien PhD; Sattler, Alexander M. MD; Kurt, Bilgen MD; Schaefer, Juergen R. MD

Collapse Box


Objective: Hyperlipidemia is a risk factor for coronary artery disease (CAD). Apolipoprotein A5 (APOA5) is a member of the apolipoprotein APOA1/C3/A4/A5 gene cluster and a major determinant of plasma triglyceride levels in the population. Various studies have identified a number of common (APOA5 c.56C>G; p.S19W; rs 3135506 ) and rare variants in the APOA5 gene in individuals with hypertriglyceridemia. However, little is known on the impact of rare APOA5 mutations for the risk of coronary artery disease; therefore, we screened the APOA5 gene in subjects with CAD.

Methods: The coding region of the APOA5 gene was screened in 501 subjects (334 with CAD and 167 CAD-free) undergoing diagnostic coronary angiography by denaturing gradient gel electrophoresis.

Results: APOA5 p.S19W variant c.56 C>G was found in a total of 61 subjects, five of them homozygous. Beside this well-known mutation, the denaturing gradient gel electrophoresis screening identified only one subject with a synonymous APOA5 mutation, c.70C>A; p.R24R. APOA5 p.S19W was more frequent in patients with CAD (CAD, 14.4%; no CAD, 7.8%; P = 0.021); and in addition, all homozygous subjects (n = 5) for APOA5 p.S19W had CAD. Furthermore, carriers of the p.19W allele had significantly higher triglyceride levels (240 ± 149 vs 185 ± 118 mg/dL; P < 0.01).

Conclusions: From these data, we conclude that (1) APOA5 p.S19W is a common variant, with very few additional APOA5 gene mutations; (2) APOA5 p.S19W plays a major role in triglyceride metabolism; and (3) APOA5 p.S19W is a CAD risk factor.

Copyright © 2012 by the American Federation for Medical Research.


Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.