新疆维吾尔族人群ACE2基因多态性与高血压相关性研究  

The correlation study between ACE2 gene polymorphism and essential hypertensionin xinjiang uygur nationality

作　　者：刘城[1,2] 郭宝云 申艳[1] 赵海燕[2] 阿不都热西提.则亚维丁[2] 赖艳娴 黎艳芳[1] 

机构地区：[1]广州市第一人民医院心血管内科,广东广州510180 [2]新疆维吾尔自治区喀什地区疏附县人民医院,新疆喀什844100

出　　处：《广州医科大学学报》2017年第3期35-39,共5页Academic Journal of Guangzhou Medical University

基　　金：新疆维吾尔自治区自然科学基金资助项目(201318101-12);广东省科技计划项目(2014A020212372)

摘　　要：目的:探讨血管紧张素转化酶2(angiotensin converting enzyme 2,ACE2)基因多态性与新疆喀什地区维吾尔族人群高血压(essential hypertension,EH)的相关性。方法:采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)技术,检测在新疆维吾尔自治区喀什地区疏附县人民医院采集的门诊与住院维吾尔族无血缘关系的HT患者血液标本102例(高血压组)及同期体检的健康维吾尔族居民血液标本96例(对照组),分析在前述两组人群中ACE2基因rs2285666、rs1978124、rs4646142和rs4830542位点多态性的差异。结果:除ACE2基因rs4830542位点多态性在两组基因型频率(P=0.000)、等位基因频率分布(P=0.002)差异有统计学意义外,其余的ACE2基因rs2285666、rs1978124、rs4646142位点多态性在两组基因型频率(P值分别为0.815、0.352、0.653)、等位基因频率分布(P值分别为0.562、0.139、0.568)差异均无统计学意义。在对照组中,ACE2基因rs4830542位点多态性基因型频率在男性或女性之间的分布差异无统计学意义(P=0.204),均以TT基因型为主(66.7%/72.7%);而在高血压组中,其差异有统计学意义(P=0.003),且以CT基因型为主(70.0%/54.8%)。更进一步地,无论男性或女性,在高血压组中ACE2基因rs4830542位点CT基因型频率明显高于对照组,其CT基因型人群发生高血压的风险高于CC等位基因人群(OR=5.366,95%CI:1.315-21.659,P=0.019)。结论:ACE2基因rs4830542位点多态性与新疆维吾尔族人群高血压相关,其CT基因型可能是新疆维吾尔族人群高血压的遗传易感因素。Objective：To investigate the relationship between angiotensin converting enzyme 2（ ACE2） gene polymorphism and essential hypertension（EH）in Xinjiang Uygur nationality.Methods：102 patients with EH and 98 nomortensive controls were included in the study to assess the contribution of the polymorphism（ rs2285666, rs1978124,rs4646142 and rs4830542） in ACE2 gene to EH by matrix-assisted laser desorption ionization time of flight mass spectrometry （MALDI-TOF MS）.Results：There were significant difference between the two groups in genotype（ P=0.000） and allele（ P=0.002） frequencies of ACE2 rs4830542. However,no significant differences were detected in the genotype（ P= 0.815,0.352 and 0.653,respectively） and allele（ P=0.562,0.139 and 0.568, respectively） frequencies of ACE2 rs2285666, rs1978124 and rs4646142. In control group, whether male or female Uygur patients with EH,there were no significant difference in genotype（ P=0.204） frequencies of ACE2 rs4830542,and both were mainly the genotype TT（66.7%/72.7%）. Correspondingly,significant differences were observed in EH group （ P=0. 003 ） , but both were chiefly the genotype CT （ 70. 0%/54. 8%） . Furtherly, the genotype CT frequencies of ACE2 rs4830542 in either male or female Uygur patients with EH were significantly greater than the control, and the risk developing EH in population carriedgenotype CT was significantly higher than that in population carried genotype CC（OR=5.366,95%CI：1.315-21.659,P=0.019）.Conclusion：The gene polymorphism of ACE2 rs4830542 is associated with EH in Xinjiang Uygur nationality,and the genotype CT may be a factor contributing to the genetic susceptibility of EH in Xinjiang Uygur nationality.

关 键 词：维吾尔族 ACE2 基因多态性 高血压 

分 类 号：R544.1[医药卫生—心血管疾病]