Huang Yi, Lian Jiangfang, Huang R Stephanie, Wang Feiming, Xu Limin, Le Yanping, Yang Xi, Xu Weifeng, Huang Xiaoyan, Ye Meng, Zhou Jianqing, Duan Shiwei
The Affiliated Hospital, School of Medicine, Ningbo University, Ningbo, Zhejiang, China.
Genet Test Mol Biomarkers. 2013 Jan;17(1):25-9. doi: 10.1089/gtmb.2012.0254. Epub 2012 Nov 21.
Westaway et al. have revealed a significant association between common variants of calsequestrin-2 (CASQ2) and nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP) and the risk of sudden death in patients of coronary heart disease (CHD). In light of the findings, we aim to explore the association between variants of the two genes and CHD risk in Han Chinese. Our results show a significant contribution of rs10918859 of the NOS1AP gene to CHD in Han Chinese (genotype: χ(2)=8.33, df=2, p=0.015; allele: χ(2)=4.00, df=1, p=0.047, odds ratio [OR]=1.44, 95% confidence interval [CI]=1.00-2.05). The association of rs10918859 with CHD is seen only in men (genotype: χ(2)=7.81, df=2, p=0.02; allele: χ(2)=4.49, df=1, p=0.03, OR=1.66, 95% CI=1.03-2.66). Moreover, rs10918859 is likely to exert its effect under a dominant model in men (χ(2)=7.6, df=1, p=0.005, OR=2.46, 95% CI=1.29-4.71). No association is observed between CASQ2 variants and CHD risk. The frequencies of rs12084280-C and rs10918859-A are higher in Han Chinese (36.7% and 41.6%) than those in Europeans (11% and 19.4%, respectively). These ethnic differences imply that further validation of NOS1AP in the susceptibility of CHD in other populations is warranted. We confirm that rs10918859 of the NOS1AP gene is associated with CHD in Han Chinese. In addition, here we report a gender effect in the association between rs10918859 of the NOS1AP gene and CHD.
韦斯塔韦等人发现,肌集钙蛋白-2(CASQ2)和一氧化氮合酶1(神经元)衔接蛋白(NOS1AP)的常见变异与冠心病(CHD)患者的猝死风险之间存在显著关联。鉴于这些发现,我们旨在探讨这两个基因的变异与中国汉族人群冠心病风险之间的关联。我们的研究结果显示,NOS1AP基因的rs10918859在中国汉族人群的冠心病发病中具有显著作用(基因型:χ(2)=8.33,自由度=2,p=0.015;等位基因:χ(2)=4.00,自由度=1,p=0.047,比值比[OR]=1.44,95%置信区间[CI]=1.00 - 2.05)。rs10918859与冠心病的关联仅在男性中可见(基因型:χ(2)=7.81,自由度=2,p=0.02;等位基因:χ(2)=4.49,自由度=1,p=0.03,OR=1.66,95% CI=1.03 - 2.66)。此外,rs10918859在男性中可能在显性模型下发挥作用(χ(2)=7.6,自由度=1,p=0.005,OR=2.46,95% CI=1.29 - 4.71)。未观察到CASQ2变异与冠心病风险之间存在关联。rs12084280 - C和rs10918859 - A在中国汉族人群中的频率(分别为36.7%和41.6%)高于欧洲人(分别为11%和19.4%)。这些种族差异表明,有必要在其他人群中进一步验证NOS1AP在冠心病易感性中的作用。我们证实,NOS1AP基因的rs10918859与中国汉族人群的冠心病有关。此外,我们在此报告了NOS1AP基因的rs10918859与冠心病之间关联的性别效应。