血管紧张素Ⅱ-1型受体基因A1166C多态性与高血压的相关性研究初探

The Relationship Between Angiotensin Ⅱtype 1 Receptor Gene A1166C Polymorphism and Essential Hypertension

目的建立高血压的病例对照组,研究血管紧张素Ⅱ-1型受体(AT1R)基因A1166C多态性与国人高血压的关系,为高血压病的诊断、治疗及易患性研究提供依据。方法应用聚合酶链反应,限制性内切酶酶解的方法检测83例原发性高血压患者(高血压组)和64例健康人(对照组)的AT1R基因型,比较各组间的基因分布差异,分析AT1R基因A1166多态性与高血压的关系。结果高血压患者AT1R基因型AA、AC、CC的频率分别为57.8%、38.6%、3.6%与正常对照组的67.2%、29.7%、2.7%相比较,无显著性差异(P>0.05)。结论高血压是"基因-基因"与"基因-环境"相互作用所致的多基因遗传性疾病,AT1R仅为肾素血管紧张素系统成员之一的基因受体,A1166C多态性位于3’端非翻译区内,其可能对AT1R的表达起调控作用;我们发现AT1R的C等位基因频率在高血压组的分布较正常组高,但无统计学意义,尚不能确定ATR基因A1166C多态性与高血压有相关性。

Objective To collect the cases and compare the data of essential hypertension, study the relation between the AT1 R gene A1166C polymorphism and hypertension of Chinese people, find the reason of the formation of hypertension from the molecule level and give theory support to diagnosis, treatruent and research of hypertension. To investigate the relation between AT1R gene A1166C polymorphism and essential hy- pertension. Methods AT1R genotype was tested with technique of PCR - RFLP in 83 subjects with hypertension and 64 healthy subjects, the difference of gene distribution in EH group is compared with that in control group. The relation between AT1 R gene A1166C polymorphism and essential hypertension was analyzed. Results The frequency of AT1R genotype AA, AC and CC is 57.8%, 38.6% and 3.6% respectively, compared with 67.2%, 29.7% and 2.79% in normal group, there is no statistical difference （ P 〉0.05）. Conclusion Hypertension is an inherited disease caused by the effect of ＂gene - gene＂ and ＂gene - environment＂. AT1R is a gene receptor subtype of the members in RAS. A1166C polymorphism locates in 3＇ untranslated region of AT1 R. The frequency of c allele in hypertension is higher than that in normal group, but there is no statistical significance. The relation between AT1 R gene A1166C polymorphism and hypertension can＇ t be confirmed.