诱导型一氧化氮合酶基因多态与脑卒中合并冠心病

目的 探讨诱导型一氧化氮合酶(NOS)2A基因多态与脑卒中合并冠心病发病的关系.方法 以rs28944190位点为遗传标记,采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)检测708例脑卒中患者和235名对照组人群NOS2A基因的多态性.结果 脑卒中组和对照组的rs28944190位点等位基因、基因型频率差异无统计学意义;以是否合并冠心病对病例组人群进行分层后,cocaphase分析表明合并冠心病的脑卒中组rs28944190位点的C等位基因频率(23.9%)较单纯脑卒中组(16.6%)明显增高(x2=5.629,P=0.018,OR=1.580,95%CI 1.083～2.306),这种差异在男性患者更加明显(x2=8.592,P=0.003,OR=1.983,95%CI 1.255～3.134).卡方检验表明合并冠心病的脑卒中组AC+CC基因型的频率(47.9%)明显高于单纯脑卒中组(30.8%,x2=10.761,P=0.001,OR=2.065,95%CI 1.34～3.19),在男性患者差异更加明显(x2=15.762,P=0.000,OR=2.985,95%CI 1.74～5.12).结论 NOS2A基因与脑卒中的发病可能无关,但可能与合并冠心病的脑卒中发病相关.

A population-based study of the inducible nitric oxide synthase gene polymorphism for stroke with coronary artery disease in a Chinese population

Objective To investigate the genetic association between the inducible nitric oxide synthase (NOS) 2A gene and stroke with a history of coronary artery disease ( CAD). Methods 708 patients with stroke and 235 healthy controls were recruited in this study, and the stroke group was delaminated into 2 subgroups according to the history of CAD. SNP rs28944190, an A to C base change located in intron 22 of the gene, was used as a genetic marker. PCR-based restriction fragment length polymorphism analysis was applied to genotype rs28944190 (Hac Ⅲ site). Results The x2 test showed no association between patients with stroke and healthy controls. Of 708 patients, 94 had a history of CAD and the frequency of allele C of rs28944190 was significantly higher in patients with a history of CAD than those without (23.9% vs 16.6%, x2 =5.629, df= 1, P =0.018, OR = 1.580, 95% CI 1.083—2.306), especially in male patients (x2 = 8. 592, df= 1, P = 0. 003, OR = 1. 983, 95% CI 1. 255—3. 134). The frequency of genotype AA + AC of rs28944190 was significantly higher in patients with a history of CAD than those without such a history (47.9% vs 30. 8%, x2 = 10. 761, df= 1, P = 0. 001, OR = 2. 065, 95% CI 1.34—3.19), especially in male patients (x2 = 15. 762, df= 1, P =0. 000, OR =2. 985, 95% CI 1.74—5. 12). Conclusion The present study suggests that the NOS2A gene is unlikely to contribute to the etiology of stroke.