【摘要】 目的探讨新疆维吾尔族人群内皮型一氧化氮合酶基因(endothelialnitricoxidesynthasegene,eNOS)第7外显子894G→T多态性与原发性高血压(essentialhypertension,EH)之间的关系。方法应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对新疆地区375例EH患者(EH组)及正常血压者414例(NT组)的eNOS第7外显子894位进行基因分型,并采用生化技术测定其空腹血糖、血浆胆固醇、甘油三酯、胆红素,测定体重指数等水平。结果(1)eNOS基因第7外显子894G→T多态性符合Hardy-Weinberg平衡;GG、GT、TT基因型频率在维吾尔族EH患者及正常人群中分布分别为56.5%、28.3%、15.2%和65.9%、22.5%、11.6%,T等位基因频率分别为29.33%和22.83%,该位点各基因型频率与等位基因频率在维吾尔族高血压组和正常对照组中差异有统计学意义(P<0.05,OR=2.97,95%可信区间1.393~6.358)。(2)在EH组中GT+TT基因型者的收缩压[(171.36±22.30)mmHg,1mmHg=0.133kPa]和舒张压[(103.63±13.22)mmHg]均显著高于GG基因型者[(158.07±20.85)mmHg和(89.90±10.39)mmHg],两组比较差异有统计学意义(P<0.01)。结论eNOS基因第7外显子894G→T变异可能是中国新疆维吾尔族人群EH的一种遗传易感性指标。更多还原

【Abstract】 Objective To investigate the association between G894T polymorphism and essential hypertension (EH) in Uygur population in Xinjiang province. Methods In this case-control study, G894T genotypes in 375 hypertension patients (EH group) and 414 normotensive control subjects (NT group) from the rural area of Tuluafan of Xinjiang was investigated by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results (1) Significant differences were found in GG, GT and TT frequencies of G894T genotypes between the EH and NT groups (56.5%,28.3%,15.2% in EH group and 65.9%,22.5%,11.6% in NT group, OR=2.97,95% CI 1.393-6.358). T allele frequencies were significantly higher in EH group (29.33%) than that in NT group (22.83%, P<0.05). (2) SBP,DBP in patients with T allele of eNOS gene [(171.36±22.30) mm Hg and (103.63±13.22) mm Hg] were significantly higher than that of GG genotype [(158.07±20.850) mm Hg and (89.90±10.39) mm Hg] ( P<0.01). Conclusions eNOS gene exon7 G894T polymorphism might relate to essential hypertension in Uygur population in Xinjiang province.更多还原