血管紧张素Ⅱ 1型受体基因573T〉C和1166A〉C多态性与新疆哈萨克族高血压的关系

目的:研究血管紧张素Ⅱ 1型受体(AT1R)基因573T>C和1166A>C多态性与新疆哈萨克族原发性高血压(EH)的关系.方法:采用病例-对照研究随机选取新疆哈萨克族牧民EH患者(EH组)194例,正常血压者(对照组)115例,采用聚合酶链反应和限制性片段长度多态性技术检测AT1R基因573T>C和1166A>C多态性,用最大似然法估计两位点单体型频率.结果:AT1R基因573T>C多态性在EH组中T、C等位基因频率分别为0.799,0.201,对照组中T、C等位基因频率分别为0.713和0.287,EH组T等位基因频率高于对照组(P<0.05).1166A>C位点仅在EH组检测到1例CC基因型,A、C 2种等位基因和基因型频率在2组间分布差异无统计学意义(均P>0.05).573T>C和1166A>C间未检测到连锁不平衡.T573-A1166组成的单体型频率最高,占70.4%,其次是C573-A1166,为17.1%.2组间单体型分布差异无统计学意义(P>0.05).不同单体型对EH的影响差异无统计学意义(均P>0.05).结论:AT1R基因573T>C的T等位基因和TT及TC基因型是新疆哈萨克族EH可能的易感因素,而573T>C和1166A>C组成的单体型可能与新疆哈萨克族EH无关.

Association between the 573T〉C and 1166A〉C polymorphism of the angiotensin Ⅱtype 1 receptor gene and essential hypertension in Kazakans of Xinjiang

Objective:To investigate whether the 573T>C and 1166A>C polymorphism of the angiotensin II type 1 receptor(AT1R) gene were associated with the essential hypertension(EH) in Kazakans of Xinjiang.Method:Polymerase chain reaction and restriction fragment length polymorphism methods(PCR-RFLP) were used to detect the 573T>C and 1166A>C polymorphisms of AT1R gene in Kazakans who were selected randomly from the pasturing area of Xjinjiang,including 194 EH and 115 normotensive controls.The statistical analysis was implemented in statistical package SPSS11.0.The frequencies of the haplotypes were estimated based on the maximum likelihood method with the SNPSTATs program.Result:Both of the observed alleles and genotypes of 573T>C and 1166A>C polymorphisms were in agreement with Hardy-Weinberg equilibrium.The frequencies of T573 alleles were 0.799 and 0.713 in EH and controls,respectively,while C573 alleles frequencies were 0.201 and 0.287,respectively.The T573 allele frequency in EH group was significantly higher than that in controls(P=0.02).Neither A nor C allele frequencies of 1166A>C polymorphism were significant in EH and controls(P=0.87).No linkage disequillibrium was found between 573T>C and 1166A>C polymorphisms.The most frequent haplotype was T573-A1166(70.4%),the secondary was haplotype C573-A1166(17.1%).None of the haplotypes composed of 573T>C and 1166A>C polymorphisms was significantly different in EH and controls(P=0.07).Conclusion:The T allele of 573T>C polymorphism at AT1R gene was possibly the susceptible factors to EH in Kazakans of Xinjiang,while no haplotype composed of 573T>C and 1166A>C polymorphisms was associated with EH.