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Licensed Unlicensed Requires Authentication Published by De Gruyter September 11, 2007

Apolipoprotein A-V gene polymorphisms in subjects with metabolic syndrome

Loredan Stefan Niculescu, Jamila Fruchart-Najib, Jean-Charles Fruchart and Anca Sima
From the journal


Background: Genetic variation at the apolipoprotein A-V locus, recently discovered proximal to the APOA1/C3/A4 gene cluster, is associated with elevated triglyceride concentrations, a risk factor for atherosclerosis.

Methods: The goal of our study was to determine the association of two apolipoprotein A-V (APOA5) gene polymorphisms in a group of urban Romanian subjects with the prevalence of the metabolic syndrome. For this purpose, we assayed −1.131T>C and c.56C>G polymorphisms for 279 subjects divided into three groups: a control group, a metabolic syndrome group and a cardiovascular disease group. Then we correlated the minor allele frequencies with body mass index and biochemical parameters.

Results: We obtained higher frequency for −1.131C compared to c.56G alleles, both mainly distributed in overweight subjects. Body mass index and triglyceride levels were higher in −1.131C allele carriers in metabolic syndrome patients, but were not significantly different in c.56G carriers compared to those with the native gene. Metabolic syndrome −1.131C homozygotes presented lower high-density lipoprotein cholesterol and higher glucose levels compared to subjects with the native gene. Total cholesterol, low-density lipoprotein cholesterol and insulin were not different between −1.131C or c.56G allele carriers and those with the native gene.

Conclusions: Our results demonstrate an independent risk for −1.131T>C APOA5 gene polymorphisms in the development of metabolic syndrome.

Clin Chem Lab Med 2007;45:1133–9.

Corresponding author: Loredan Stefan Niculescu, Department of Lipoproteins and Atherosclerosis, Institute of Cellular Biology and Pathology “Nicolae Simionescu”, 8 B.P. Hasdeu Street, P.O. Box 35-14, Bucharest 050568, Romania Phone +40-21-3194518, Fax +40-21-3194519,

Received: 2006-11-6
Accepted: 2007-4-5
Published Online: 2007-09-11
Published in Print: 2007-09-01

©2007 by Walter de Gruyter Berlin New York