原发性高血压血管紧张素转换酶和血管紧张素原基因遗传倾向

Polymorphism of angiotensin-converting enzyme and angiotensinogen genes in essential hypertension: genetic predisposition in Chinese Han population

目的探讨血管紧张素转换酶（ＡＣＥ）和血管紧张素原（ＡＧＴ）基因在原发性高血压中的遗传倾向。方法应用聚合 酶链反应－限制性长度多态及四角分析法检测并比较各组ＡＣＥ和ＡＧＴ基因多态的频数和优势比（９５％可信区间）。结 果ＡＣＥ基因ＤＤ／Ⅱ基因型及Ｄ／Ｉ等位基因在各组间均无差异（Ｐ＞０．０５）；而ＡＧＴ基因ＴＴ／ＭＭ及ＴＭ等位基因在高血 压父母与正常血压父母的正常血压子代者间存在显著差异（Ｐ＜０．０１），优势比分别为１８．０（３．０９～１０４．９）和２．６９（１．６３～４．４５）， 其余组间无明显差异（Ｐ＞０．０５）。结论ＡＧＴ基因Ｍ２３５Ｔ突变具有明显的遗传倾向，可能是汉族人群易患高血压的候选 基因（遗传标志）。

Objective:To investigate the genetic predisposition of the encoding genes for angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) in essential hypertension (EH) in Chinese Han population. Methods The genome DNA of the leukocytes was obtained from normotensive and essential hypertensive subjects both of whose parents had or had not EH. The genotypes and alleies of ACE and AGT genes were identified by polymerase chain reaction-restricted fragment length polymophism (PCR-RFLP) analysis, and the frequencies and odds ratio (95% confidence interval) calculated by way of fourcomer analysis. Results The frequencies of DD/Ⅱ genetype and D/I allele of ACE gene were not significantly different (P>0.05) between the groups as shown by four-comer analysis. It was shown that the hypertensive parents were more likely to produce higher frequencies of TT/MM genotype and T/M allele of AGT in their normotensive offsprings than the normotensive parents did (P<0.05), with the odds ratio of 18.0 (3.09 to 104.9) and 2.69 (l.63 to 4.45) respectively. Similar difference was not observed between other groups. Conclusion M235T variant of AGT gene may be the candidate gene (genetic marker) responsible for the genetic predisposition to EH in Chinese Han population.