A homozygote for rs12709426 of the ACE gene in patients with essential hypertension: a case report

Objectives: As a polygenic disease, the pathogenesis of essential hypertension (EH) remains under investigation. We explored the association between EH and a single nucleotide polymorphism (SNP) of ACE (rs12709426) in patients in the Hefei region of Anhui, China.Methods: Patients (n=400) with EH and 100 healthy cases as the control group were included. The SNP rs12709426 was detected using the improved multiple ligase detection reaction (imLDR) system. We designed a questionnaire to collect the general data of the patients.Results: The SNP rs12709426 only has a homozygous AA genotype, no gene polymorphism. There were no differences in the frequency of genetic polymorphism between the EH and control groups.Conclusion: The ACE gene SNP rs12709426 only has a homozygous AA genotype, and does not show an association with EH. There was no case report of homozygous ACE gene rs12709426 yet. The experiment provides a meaningful clue for further study on the susceptibility differences and pathogenesis of EH in different regions.