Search

1. Peroxisome proliferrator-activated receptor γ coactivator-1α (PGC-1α; PPARGC1A) is a coactivator of the nuclear hormone receptor family that participates in the transcriptional programme of lipid metabolism and oxidative stress implicated in atherogenesis. Therefore, in the present study, we investigated PPARGC1A polymorphisms in the prevalence of coronary artery disease (CAD). 2. A case-control study comprising 342 patients with CAD and 334 controls was performed in a Chinese population. Two single nucleotide polymorphisms (Gly482Ser and Thr394Thr) in the PPARGC1A gene were genotyped and compared using the polymerase chain reaction–restriction fragment length polymorphism method. 3. The XA (GA + AA) genotype of Gly482Ser displayed a higher frequency in CAD patients than that in control subjects ( P = 0.019; adjusted odds ratio = 1.53; 95% confidence interval 1.06–2.20). No significant difference in Thr394Thr genotype distribution or in Gly482Ser–Thr394Thr haplotype combinations was found between CAD patients and controls. Furthermore, we found that the significantly increased risk of CAD associated with the XA genotypes of Gly482Ser was more evident among subjects who were younger than 64 years of age, female, overweight and with hypertension. 4. The results indicate that the PPARGC1A Gly482Ser polymorphism may contribute to the risk of CAD in the Chinese population investigated. [ABSTRACT FROM AUTHOR]

Abstract: Elevation in plasma triglycerides (TG) has been widely accepted as a coronary artery disease (CAD) risk predictor. Recently, a new apolipoprotein playing an important role in TG metabolism named apolipoprotein AV (apoAV) was discovered, which is encoded by the APOA5 gene. Several single nucleotide polymorphisms (SNPs) of APOA5 associated with increased TG concentrations have been identified. We here report that a recently identified genetic variant, c.553G>T in the APOA5 gene which causes a substitution of a cysteine for a glycine residue at amino acid residue 185(G185C) is also associated with increased TG levels. To investigate the association between this genetic variation and the risk of CAD, a case-control study comprising 232 patients with CAD and 302 controls from the same area of China was performed. The minor allele frequencies of c.553G>T for the CAD and control groups were 7.76 and 3.97%, respectively (P =0.008). In both the CAD and control groups, the T allele carriers had higher serum TG levels than homozygous carriers of the major G allele (CAD group: 2.67±1.48mmol/l versus 1.95±1.02mmol/l, P =0.021; controls: 2.31±1.20mmol/l versus 1.68±0.95mmol/l, P =0.002). After adjustment for age, gender, body mass index, smoking status, glucose and presence of hypertension, the odds ratio (OR) for CAD in the T allele carriers was 2.089 (95% CI=1.140–3.830, P =0.017), in comparison to the individuals without the T allele. These results suggest that the APOA5 c.553G>T polymorphism is an important predictor for hypertriglyceridemia and CAD. [Copyright &y& Elsevier]