Tsukada K, Ishimitsu T, Teranishi M, Saitoh M, Yoshii M, Inada H, Ohta S, Akashi M, Minami J, Ono H, Ohrui M, Matsuoka H
Department of Hypertension and Cardiorenal Medicine, Dokkyo University School of Medicine, Tochigi, Japan.
J Hum Hypertens. 2002 Nov;16(11):789-93. doi: 10.1038/sj.jhh.1001484.
Predispositions to essential hypertension and cardiovascular diseases are possibly associated with gene polymorphisms of the renin-angiotensin system. Gene polymorphisms of angiotensinogen and angiotensin-converting enzyme genes have been suggested to be risk factors for hypertension and myocardial infarction. Concerning the polymorphism of aldosterone synthase (CYP11B2) gene, earlier studies have shown inconsistent results in terms of its relation to hypertension. In the present case-control study, we investigated the association of -344T/C polymorphism in the promoter region of human CYP11B2 gene with genetic predisposition to hypertension. The genotype of -344T/C polymorphism was determined in essential hypertension subjects (n=250) and normotensive subjects (n=221). The distributions of three genotypes (TT, TC, and CC) were significantly different between the hypertensive and the normotensive groups (chi(2)=9.61, P=0.008). Namely, the frequency of C allele was higher in the hypertensive patients than in the normotensive subjects (34.2 vs 26.5%, P=0.010). Our data suggest that the -344C allele of CYP11B2 gene polymorphism is associated with the genetic predisposition to develop essential hypertension.
原发性高血压和心血管疾病的易感性可能与肾素-血管紧张素系统的基因多态性有关。血管紧张素原和血管紧张素转换酶基因的多态性被认为是高血压和心肌梗死的危险因素。关于醛固酮合酶（CYP11B2）基因的多态性，早期研究在其与高血压的关系方面显示出不一致的结果。在本病例对照研究中，我们调查了人类CYP11B2基因启动子区域-344T/C多态性与高血压遗传易感性的关联。在原发性高血压患者（n=250）和血压正常者（n=221）中测定了-344T/C多态性的基因型。高血压组和血压正常组之间三种基因型（TT、TC和CC）的分布有显著差异（χ²=9.61，P=0.008）。也就是说，高血压患者中C等位基因的频率高于血压正常者（34.2%对26.5%，P=0.010）。我们的数据表明，CYP11B2基因多态性的-344C等位基因与原发性高血压的遗传易感性有关。
