中国人端粒逆转录酶(TERT)基因多态与高血压的关联关系

Common Variation in Tert Gene and Essential Hypertension in Chinese Population

目的高血压等心血管疾病可能与端粒长度和端粒酶活性相关。本研究在中国汉族人群中探索TERT基因启动子区域单核苷酸多态性与高血压的关联关系。方法在1317名高血压患者和1269名经地区、性别和年龄匹配的健康对照样本中对TERT基因启动子区2个多态位点rs2736109和rs2735940采用PCR-RFLP方法进行基因型鉴定。结果 rs2736109和rs2735940的基因型分布在高血压病例和对照中差异均无显著性(rs2736109:P=0.794;rs2735940:P=0.390)。单体型分析显示在调整其他环境因素后单体型AC携带者发生高血压的危险性比GC携带者显著降低(OR=0.79,95%CI0.78-0.80,P<0.0001)。结论本研究结果提示TERT基因启动子区rs2736109和rs2735940多态位点构成的AC单体型的携带者患高血压的风险相对较低,不易患高血压。该研究结果还需在前瞻性队列研究中证实。

Objective We aimed to examine the association between the common genetic variation in the promoter region of TERT and hypertension in a Chinese case control study. Methods The samples consisted of 2586 （1317 unrelated hypertensive cases and 1269 unrelated normotensive） Han Chinese. Two polymorphisms in TERT promoter region, rs2736109 and rs2735940, were selected and were genotyped by PCR-RFLP method. Results There were no significantly differences in the genotypic and allelic frequencies between cases and controls. However, the haplotype analysis showed that AC haplotype significantly decreased the risk of hypertension （OR=0.79,95%CI 0.78-0.80,P0.0001）. Conclusions Our findings suggested that haplotype variation in the promoter region of TERT gene might contribute to the risk of hypertension in the northern Han Chinese population. This initial finding needs to be validated in prospective cohort studies.