Association of angiotensin I converting enzyme 2 gene polymorphism with essential hypertension in Chinese / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>Seven hundred and forty-five patients with EH and 362 normal blood pressure controls were included in the study to assess the contribution of polymorphism of ACE2 gene. Direct DNA sequencing was performed to detect the single nucleotide polymorphisms (SNPs) in 20 subjects who were randomly selected from the EH patients.</p><p><b>RESULTS</b>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 incompetence(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.</p><p><b>CONCLUSION</b>The G8790A polymorphism may be related to the essential hypertension with cardiac incompetence in Chinese population. Additional investigation will be need to confirm the association.</p>