Association of nicotinamide adenine dinucleotide phosphate oxidase p22phox gene 549C>T polymorphism with coronary artery disease / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The p22phox is a critical component of the superoxide-generating vascular nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Several polymorphisms in p22phox gene are studied for their association with cardiovascular diseases. However, no publication is available to assess the relation of 549C > T polymorphism in p22phox gene to coronary artery disease (CAD) risk. This study was to investigate the effect of the p22phox gene 549C > T polymorphism on CAD risk.</p><p><b>METHODS</b>Hospital-based case-control study was conducted with 297 CAD patients and 343 healthy persons as the control group. Polymerase chain reaction and pyrosequencing using PSQ 96 MA Pyrosequencer (Biotage AB) were used to detect the polymorphisms. Multiple Logistic regression model was used to adjust the potential confounders and to estimate odds ratio (OR) with 95% confidence intervals (CIs).</p><p><b>RESULTS</b>The observed genotype frequencies of this polymorphism obeyed the Hardy-Weinberg equilibrium in both cases (P = 0.439) and controls (P = 0.668). The frequency of mutant genotypes (TT + CT) in cases (41.08%) was higher than that in controls (36.73%) with an OR = 1.20 (95%CI = 0.87-1.65). After the adjustment of the potential confounders, there was a significant association of the mutant genotypes with increased risk of CAD (OR = 1.57, 95%CI = 1.01-2.46, P = 0.047).</p><p><b>CONCLUSIONS</b>The mutant genotypes of the p22phox gene 549C > T polymorphism had a significant effect on the increased risk of CAD in this studied population.</p>

Association between G894T mutation in endothelial nitric oxide synthase gene and premature coronary heart disease / 中华流行病学杂志

<p><b>OBJECTIVE</b>To assess the association between G894T (Glu298Asp) mutation in exon 7 of the endothelial nitric oxide synthase gene and premature coronary heart disease (P-CHD).</p><p><b>METHODS</b>Hospital-based case-control study was conducted. Newly-diagnosed CHD patients were recruited as study subjects. 132 CHD patients diagnosed at/before age 55 for males and 65 for females were assigned to P-CHD case group with other 172 CHD patients as the control group. Polymerase chain reaction with Ban II restriction enzyme digestion was performed to detect the G894T mutation.</p><p><b>RESULTS</b>G894T mutant genotypes in P-CHD group (TT, GT and GG frequencies were 6.06%, 20.45% and 73.48%, respectively) were significant higher than those in control group (TT, GT and GG frequencies were 1.74%, 11.63% and 86.63%, respectively) (P = 0.01). Mutant T allele frequency in P-CHD group was also significantly higher than that in control group (16.29% versus 7.56%, P = 0.001, OR = 2.38, 95% CI: 1.38 - 4.16). Stepwise multiple logistic regression analysis at 0.05 significant level with sex, smoking, alcohol drinking, and overweight covariates indicated that G894T mutation also having significant effect on P-CHD (P = 0.01, OR = 2.25, 95% CI: 1.19 - 4.26).</p><p><b>CONCLUSION</b>This study suggested that G894T mutation in endothelial nitric oxide synthase gene might serve as a major risk factor to the pathogenesis of P-CHD in this study population.</p>