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本文旨在探讨共济失调毛细血管扩张症突变(ATM)基因单核苷酸多态性rs189037C>T与原发性高血压(EH)之间的关系。我们采用病例对照研究法,随机选择50岁以上的住院患者369例,根据高血压诊断标准,分为EH组(190例)和对照组(179例)。用聚合酶链式反应-限制性片段长度多态性分析方法检测ATM基因rs189037位点的基因型。在整个研究人群中,ATM基因rs189037的三种基因型CC、CT和TT分别占33.9%、48.0%和18.1%。三种基因型分布在EH组和对照组之间差异无统计学意义(P=0.619)。排除主要混杂因素以及性别和年龄分层分析后,仍未发现ATM基因多态性rs189037与EH的发生相关(P>0.05)。另外,TT型携带者中冠心病(CAD)发生风险明显低于CC和CT基因型(OR=0.49,95%CI=0.26~0.90,P=0.021)。总之,ATM基因多态性rs189037与EH的发生没有相关性,但与CAD的发生密切相关,TT基因型可能是CAD的保护因素。
This article aims to investigate the relationship between single nucleotide polymorphism rs189037C> T of ataxia telangiectasia (ATM) gene and essential hypertension (EH). We used a case-control study of 369 hospitalized patients over the age of 50 who were randomly divided into EH group (190 cases) and control group (179 cases) according to the diagnostic criteria for hypertension. The genotypes of rs189037 in ATM gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In the entire study population, the three genotypes CC, CT and TT of the rs189037 ATM gene accounted for 33.9%, 48.0% and 18.1%, respectively. There was no significant difference in the distribution of the three genotypes between the EH group and the control group (P = 0.619). After excluding the main confounders and gender and age stratification analysis, no association of rs189037 with EH was found (P> 0.05). In addition, the risk of coronary heart disease (CAD) in TT carriers was significantly lower than that of CC and CT genotypes (OR = 0.49, 95% CI = 0.26-0.90, P = 0.021). In conclusion, ATM gene polymorphism rs189037 has no correlation with the occurrence of EH, but it is closely related to the occurrence of CAD. TT genotype may be the protective factor of CAD.