血管紧张素转换酶基因2多态性与云南佤族人群原发性高血压的关系

The correlation research of angiotensin converting enzyme 2 gene polymorphism and essential hypertension in Wa minorities in Yunnan province

目的:探讨血管紧张素转换酶(ACE2)基因多态性与佤族原发性高血压(EH)人群的关系。方法:应用SnapShot技术检测了260例云南佤族EH患者及290名正常血压对照者ACE2基因20个多态位点基因型(rs1514283、rs1514282、rs2074192、rs233575、rs714205、rs4240157、rs4646176、rs4646174、rs879922、rs4646156、rs4646155、rs4646188、rs4646140、rs2158083、rs2285666、rs2106809、rs1978124、rs6632677、rs2301692、rs2306193),应用χ2检验比较组间基因型及等位基因频率,运用Hardy-Weinberg平衡检验后,用Haploview软件进行连锁不平衡分析,并用SHEsis软件进行单倍体构建,从而探讨ACE2基因多态性与佤族人群高血压的相关关系。结果:(1)本次研究在20个候选位点发现5个多态位点,这5个位点均存在连锁不平衡现象,但部分位点不能在以后的研究中相互代替。(2)rs2285666位点、rs714205位点的CC基因型及C等位基因是佤族女性EH的保护因素(P<0.05,OR<1),而rs2285666位点的T等位基因、rs714205位点的G等位基因是佤族女性EH患病的致病因素(P<0.05,OR>1);在佤族男性群体中并没有发现具有统计学意义的基因型及等位基因(P>0.05)。(3)对ACE2的5个多态性位点构建单倍型,未发现具有统计学意义的单倍型,说明这5个位点组成的单倍型与佤族EH均无关联。结论:ACE2基因中rs2285666及rs714205这两个多态位点可能与佤族女性EH相关。

Objective：To find the relationship of primary hypertension in Wa people and ACE2 gene polymorphism.Method：We chosed the 260 peoples who had hypertension and 290 controls as the research object,then Mass spectrometry and DNA direct sequencing were used to detect individual genotype in 20 candidate loci for preliminary screening of ACE2 gene by Snapshot technology.Further statistical analysis were used by Hardy Weinberg equilibrium tests and haploid type building through SHEsis software.Finally in order to get the relationship between ACE2 gene polymorphism,haploid type and hypertension,ACE2 gene and hypertension incidence of Wa people relationships were gained.Result：（1）In our testing of 20 polymorphic locis,we found five locis with gene polymorphism in Wa people,and we do the linkage disequilibrium for these five locis.All of them existed linkage disequilibrium phenomenon,but part of the site couldn＇t replace each other in future research.（2）Both in the total group and female group we found that CC genotype and C allele in rs2285666,rs714205 were protective factors of Essential hypertension（P〈0.05,O〈R1）.The T allele in rs2285666 and G allele in rs714205 were the risk factors of essential hypertension（P〈0.05,O〈R1）.（3）After haploid type of these 5 polymorphism loci points was constructed,we found that only one haploid type（TGCGC）existed statistical differences among women in Wa people.But no haploid type was founds in male people.Conclusion：The gene polymorphism in rs2285666 and rs714205 are collected with the hypertension in Wa female people.