Hyperplasia suppressor gene polymorphisms and essential hypertension: a case-control association study in a central Han Chinese population

Int J Clin Exp Pathol. 2020 Jul 1;13(7):1886-1896. eCollection 2020.

Abstract

Background: HSG (hyperplasia suppressor gene, also named Mitofusion-2, Mfn-2) gene polymorphisms have been studied as a candidate gene in essential hypertension, but no clear consensus has been reached in the Chinese population. To systematically explore their possible association, a case-control study was conducted in a central Chinese population.

Methods and results: We recruited 402 EH patients and 267 normotensive (NT) control subjects. A total of 6 tag SNPs of HSG gene were genotyped successfully by TaqMan assay. The results showed that genotype distribution and the allelic frequency of rs873457, rs2236384, rs4846085, and rs1474868 in the EH and NT groups were significantly different (P < 0.05), although those of rs2295281 and rs17037564 were not. rs2336384, rs873457, rs4846085 and rs1474868 were also closely associated with EH under the dominant genetic model (P < 0.05). Gender-based subgroup analyses showed that significant associations between rs873457, rs2336384, rs4846085, and rs1474868 and EH could be found in males, but not in females. Haplotype analysis indicated that the C-G-T-T-T-G haplotype was positively correlated with EH.

Conclusion: Our study suggested that HSG gene polymorphisms were significantly associated with EH in a central Han Chinese population, especially in male subjects.

Keywords: Essential hypertension; central Han Chinese population; haplotype; hyperplasia suppressor gene; polymorphism.