Cheng Jinquan, Liu Jianping, Li Xiaoxia, Yu Lei, Peng Ji, Zhang Renli, Geng Yijie, Nie Shaofa
Department of Molecular Biology, Shenzhen Center for Disease Control and Prevention, Shenzhen, China.
Clin Chim Acta. 2008 Jun;392(1-2):46-51. doi: 10.1016/j.cca.2008.03.004. Epub 2008 Mar 18.
Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays a key role in vascular regulation and atherosclerosis, therefore, eNOS may be a candidate gene for ischemic stroke (IS). However, it is still controversial whether eNOS polymorphisms are a risk factor for IS.
Three polymorphisms of the eNOS gene (-922A/G, -786T/C, 894G/T) were determined by using TaqMan SNP genotyping assay in 309 Chinese patients with IS and 309 Chinese controls.
The frequency of eNOS -922 G allele was significantly higher in the patients than the controls (12.14% vs 8.09%, P=0.018). The distribution of eNOS genotypes differed insignificantly between the 2 groups. The frequency of the eNOS -786 CC genotype was higher in the patients than the controls (OR=3.819, P=0.029). With respect to -922A/G, the AG+GG genotype increased the risk for IS (OR=1.523, P=0.047). After adjustment for confounding factors, the odds ratios of -786 CC and -922 variant genotype (AG+GG) for IS were 4.580 and 1.656, respectively. However, haplotype analysis revealed the frequencies of Hap4 (GCG) and Hap7 (GCT) were significantly higher in the patients than the controls (P=0.035, 0.042).
eNOS -922A/G and -786T/C may affect the susceptibility to IS and certain haplotypes of the eNOS gene may be associated with a higher susceptibility to IS.
由内皮型一氧化氮合酶(eNOS)合成的一氧化氮(NO)在血管调节和动脉粥样硬化中起关键作用,因此,eNOS可能是缺血性卒中(IS)的候选基因。然而,eNOS基因多态性是否为IS的危险因素仍存在争议。
采用TaqMan SNP基因分型检测法,对309例中国IS患者和309例中国对照者的eNOS基因的3种多态性(-922A/G、-786T/C、894G/T)进行检测。
患者中eNOS -922 G等位基因频率显著高于对照组(12.14% 对8.09%,P = 0.018)。两组间eNOS基因型分布无显著差异。患者中eNOS -786 CC基因型频率高于对照组(OR = 3.819,P = 0.029)。对于-922A/G,AG + GG基因型增加了IS风险(OR = 1.523,P = 0.047)。校正混杂因素后,-786 CC和-922变异基因型(AG + GG)对IS的比值比分别为4.580和1.656。然而,单倍型分析显示,患者中Hap4(GCG)和Hap7(GCT)的频率显著高于对照组(P = 0.035,0.042)。
eNOS -922A/G和-786T/C可能影响对IS的易感性,eNOS基因的某些单倍型可能与较高的IS易感性相关。