Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences, Bangalore 560029, India.
J Atheroscler Thromb. 2010 Feb;17(1):45-53. doi: 10.5551/jat.1560. Epub 2009 Dec 28.
The aim of this study was to investigate the association of T-786C, G894T and 4a/b polymorphisms in the endothelial nitric oxide synthase (eNOS) gene with early-onset ischemic stroke in South Indians.
We enrolled 177 patients diagnosed with ischemic stroke aged between 15 to 45 years and 219 age- and gender-matched healthy controls. Genotypes of eNOS T-786C, G894T and 4a/b were identified by polymerase chain reaction and restriction fragment length polymorphism.
The allele and genotype frequencies of eNOS 4a/b, T-786C and G894T did not differ significantly in the patient group compared to controls. Logistic regression analysis indicated the 4a allele to be an independent predictor of ischemic stroke in females (dominant model: OR, 2.46; 95% CI, 1.11 to 5.43; p=0.026). Marked differences were found in the prevalence of the minor alleles of the three variants when comparing the South Indian population with the reported frequencies from Caucasians. There was also a contrast in the frequencies of 4ab and T-786C variants from other Asians. The genotypes of all three variants were found to be in Hardy-Weinberg equilibrium. There was a lack of significant linkage disequilibria among the variants, and none of the estimated haplo-types increased or decreased the risk of ischemic stroke.
The eNOS intron 4a/b polymorphism can predict early-onset ischemic stroke in south Indian women.
本研究旨在探讨内皮型一氧化氮合酶(eNOS)基因 T-786C、G894T 和 4a/b 多态性与南印度早发性缺血性卒中的关系。
我们纳入了 177 名年龄在 15 至 45 岁之间的缺血性卒中患者和 219 名年龄和性别匹配的健康对照者。通过聚合酶链反应和限制性片段长度多态性鉴定 eNOS T-786C、G894T 和 4a/b 的基因型。
与对照组相比,患者组 eNOS 4a/b、T-786C 和 G894T 的等位基因和基因型频率无显著差异。Logistic 回归分析表明,4a 等位基因是女性缺血性卒中的独立预测因子(显性模型:OR,2.46;95%CI,1.11 至 5.43;p=0.026)。与报告的白种人频率相比,当比较南印度人群时,三个变体的次要等位基因的患病率存在显著差异。其他亚洲人群中也存在 4ab 和 T-786C 变体频率的差异。所有三个变体的基因型均符合 Hardy-Weinberg 平衡。变体之间没有明显的连锁不平衡,估计的单体型也没有增加或降低缺血性卒中的风险。
eNOS 内含子 4a/b 多态性可预测南印度女性的早发性缺血性卒中。