【摘要】 目的探讨神经元型一氧化氮合酶基因(NOS1)多态性与腔隙性脑梗死发病的关系。方法本研究共纳入385例腔隙性脑梗死患者和313例对照组人群,以位于NOS1基因的rs9658281和rs2682820位点为遗传标记,采用聚合酶链式反应-限制性片断长度多态性(PCR-RFLP)技术检测NOS1基因的多态性。结果 Cocaphase分析表明腔隙性脑梗死组rs9658281位点G等位基因频率较对照组显著增高(χ2=4.135,P=0.042,OR=1.422,95%CI 1.013～1.997),这种差异在女性患者更加明显(χ2=9.522,P=0.002,OR=2.502,95%CI 1.398～4.479)。卡方检验表明腔隙性脑梗死组rs9658281位点的GG基因型频率较对照组显著增高(χ2=5.862,P=0.015,OR=1.579,95%CI 1.091～2.286),这种差异在女性更加明显(χ2=13.641,P<0.0001,OR=3.501,95%CI 1.800～6.810)。经过多因素回归分析调整了传统危险因素的影响后,两组间的差异仍有显著性(P=0.014)。腔隙性脑梗死组和对照组的rs2682820位点的基因型、等位基因频率差异无显著性(P>0.05)。结论 NOS1基因rs9658281位点G等位基因与腔隙性脑梗死的发病可能有关。更多还原

【Abstract】 Objective To investigate the genetic association between the NOS1 gene polymorphism and lacunar infarction.Methods 385 patients with lacunar infarction were recruited into this study,and 313 healthy people were entolled as controls.SNP rs9658281,a G to A base change located in intron 2 of the gene,and SNP rs2682820,a A to C base change located in intron 16 of the gene were used as genetic markers.PCR-based restriction fragment length polymorphism analysis was applied to genotype rs9658281(MSP I site) and rs2682820(Hae Ⅲ site).Results The frequencies of allele G was significantly higher in patients than controls(χ2=4.135,P=0.042,OR=1.422,95% CI 1.013~1.997),especially in female patients than controls(χ2=9.522,P=0.002,OR=2.502,95% CI 1.398~4.479).The frequencies of GG genotype were significantly higher in patients than controls(χ2=5.862,P=0.015,OR=1.579,95% CI 1.091-2.286),especially in female patients than controls(χ2=13.641,P<0.0001,OR=3.501,95% CI 1.800~6.810).Multiple factor regressin analysis showed that the difference was still significant after adjusted the traditional risk factors of lacunar infarction.The frequencies of allele and genotype in rs2682820 showed no significance between patients and controls.Conclusion The present study suggests that the NOS1 gene is likely to contribute to the etiology of lacunar infarction.更多还原