【摘要】 目的研究福建汉族人内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因第4内含子27 bp可变串联重复序列(variable number of tandem repeat,VNTR)与脑血管病关系。方法依据缺血性卒中TOAST(Trial of ORG 10172 in Acute Stroke Treatment)分型收集132例大动脉粥样硬化性卒中(large arteryatherosclerosis,LAA),63例腔隙性脑梗死(lacunar infarction,LI)及62例高血压性脑出血患者为病例组,同时选择年龄、性别匹配的237名健康者为对照组,采用聚合酶链反应结合2%琼脂糖电泳技术检测eNOS基因第4号内含子27 bp VNTR的多态性。结果正常福建汉族人eNOS基因第4内含子除bb,ab,aa基因型外,尚出现罕见的bc基因型,其基因型频率分别为0.789,0.203,0.004,0.004;b、a、c等位基因频率分别为.892,0.106及0.002。LAA及LI患者27 bp VNTR多态与对照组差别无统计学意义,LAA组bc基因型频率(0.030)虽明显高于对照组(0.004),但差异无统计学意义;缺血性卒中伴/不伴高血压病与该基因多态无相关性。高血压性脑出血患者的aa基因型频率为0.048,明显高于bb+ab基因型(OR=11.42,95%CI:1.209-117.892,P<0.05)。结论eNOS第4内含子aa基因型可能是福建汉族人高血压性脑出血的遗传危险因素,但该位点多态性与福建汉族LAA及LI无相关性。更多还原

【Abstract】 Objective To investigate the association of 27 bp variable number of tandem repeat(VNTR) polymorphisms in intron 4 of endothelial nitric oxide synthase(eNOS) gene with cerebrovascular disease in Han population of Fujian.Methods We characterized and studied 132 patients with large artery atherosclerosis(LAA)、63 cases with lacunar infarction(LI) according to TOAST(Trial of ORG 10172 in Acute Stroke Treatment) classification,and 62 cases with hypertensive intracerebral hemorrhage and 237 unrelated health individuals in Han population of Fujian,the 27 bp VNTR polymorphisms were detected by polymerase chain reaction and 2% agarose gel electrophoresis.Results All genotypes were in Handy-Weinberg equilibrium.Among the controls the frequencies of four genotypes bb,ba,aa,bc were 0.789,0.203,0.004,0.004,respectively,the bc genotype was rare.The allelic frequencies of b,a,and c were 0.892,0.106 and 0.002.No Significant associations of 27 bp VNTR polymorphisms with ischemic stroke were observed;although the bc genotype was overrepresented in LAA(0.030),the trend did not reach significance.The polymorphisms were not related to LAA / LI with or without hypertension.The frequency of aa genotype in hypertensive cerebral hemorrhage patients was 0.048 and significantly higher than that of bb+aa genotype(OR = 11.42,95%CI: 1.209-117.892,P < 0.05).Conclusions In Han population of Fujian,the aa genotype may be a genetic risk factor of hypertensive intracerebral hemorrhage,but there seems no correlation between 27 bp VNTR polymorphisms and large artery atherosclerosis or lacunar infarction.更多还原