血管紧张素转换酶2基因多态性与原发性高血压的关系

Association of angiotensin Ⅰ converting enzyme 2 gene polymorphism with essential hypertension in Chinese

目的研究血管紧张素转换酶2(angiotensinⅠconverting enzyme2,ACE2)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与华北地区汉族人原发性高血压的相关性。方法对ACE2基因的启动子区、5′非编码区、外显子及邻近内含子和3′非编码区设计引物进行分段扩增,采用直接测序法获得ACE2基因的SNP,并对所发现的SNP在高血压和正常血压人群中进行病例对照研究,推测ACE2基因在原发性高血压发病中的作用。结果共检出1个G8790A,位于第3内含子,为G/A多态,基因型分析示高血压组和对照组G与A基因型的分布差异无统计学意义,但在高血压伴心功能不全的患者中A基因型明显升高,与对照组相比差异有统计学意义(P<0.05)。结论ACE2基因多态性与华北汉族人原发性高血压合并心功能不全者可能具有一定相关性。

Objective To identify the genetic variants of angiotensin Ⅰ converting enzyme 2 （ACE2） gene in a Chinese population and to determine whether the ACE2 gene polymorphisms are associated with essential hypertension （EH）. Methods Seven hundred and forty-five patients with EH and 362 normal blood pressure controls were included in the study to assess the contribution of polymoq）hism of ACE2 gene. Direct DNA sequencing was perfonned to detect the single nucleotide polymorphisms （SNPs） in 20 subjects who were randomly selected from the EH patients. Results One SNP named G8790A located in the 4th base of the third intron was found in the 20 patients. The genotyping data indicate that the A allele frequency in male EH patients complicated with cardiac incomyetence（55% ） is significantly different from that in the control group（43.3% ）（ P 〈 0.01 ）. The A allele frequency in female patients with cardiac incompetence （56. 1% ） is higher than that in the controls （50.5 % ）, but the difference does not reach statistical significance. Conclusion The G8790A pnlymorphism may be related to the essential hypertension with cardiac incompetence in Chinese population. Additional investigation will be need to confim the association.