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目的探讨新疆维吾尔族血管紧张素ⅡⅠ型受体(angiotensinⅡreceptor type l,AT1R)基因T573C多态性与原发性高血压(essential hypertension,EH)的关系。方法采集新疆维吾尔族人群血液标本共404例,其中EH患者87例(EH组),健康对照人群317例(正常对照组),采用多聚酶链式反应-限制性内切酶片段长度多态性分析方法(PCR-RFLP),对AT1R基因T573C多态性进行检测,通过病例-对照关联分析方法比较各组间基因型和等位基因分布频率的差异。结果 (1)新疆维吾尔族EH组AT1R基因型频率(TT 0.448、TC 0.368、CC 0.184)与正常对照组(TT 0.533、TC 0.382、CC 0.085)比较差异有统计学意义(P=0.03),且573C等位基因频率高于正常对照组(0.368 vs 0.276,P=0.019)。(2)维吾尔族女性EH患者中CC基因型频率与正常对照组比较差异有统计学意义(0.214 vs 0.068,P=0.01)。(3)维吾尔族人群中携带有CC基因型的个体患高血压的发病风险是TT基因型个体的2.57倍(OR=2.57,95%CI:1.26~5.22,P=0.008),这种差异在维吾尔族女性中更明显(OR=3.73,95%CI:1.52~9.12,P=0.003)。结论 AT1R基因T573C多态性CC基因型可能是维吾尔族人群发生EH的易感因素。
Objective To investigate the relationship between T573C polymorphism of angiotensin Ⅱ receptor type 1 (AT1R) gene and essential hypertension (EH) in Xinjiang Uigur population. Methods A total of 404 blood samples were collected from Uyghur people in Xinjiang, including 87 EH patients (EH group) and 317 healthy controls (normal control group). The polymerase chain reaction-restriction fragment length polymorphism Methods The polymorphism of AT1R gene T573C was detected by PCR-RFLP. The difference of genotype and allele distribution frequency between groups was compared by case-control association analysis. Results The frequencies of AT1R genotype (TT 0.448, TC 0.368, CC 0.184) in Uygur nationality in Xinjiang Uigur were significantly different from those in normal controls (TT 0.533, TC 0.382, CC 0.085) 573C allele frequency was higher than the normal control group (0.368 vs 0.276, P = 0.019). (2) The frequencies of CC genotypes in Uighur women with EH were significantly different from those in normal controls (0.214 vs 0.068, P = 0.01). (3) The incidence of hypertension in individuals carrying CC genotype among Uyghur population was 2.57 times higher than that in individuals with TT genotype (OR = 2.57, 95% CI: 1.26-5.22, P = 0.008) Uyghur women more obvious (OR = 3.73,95% CI: 1.52 ~ 9.12, P = 0.003). Conclusion The CC genotype of T573C polymorphism of AT1R gene may be the predisposing factor of EH in Uygur population.