Aim: Hyperplasia suppressor gene/mitofusion-2 (HSG/Mfn2) is a hyperplasia suppressor gene and an essential component of mitochondrial fusion machinery; however, the association between the single nucleotide polymorphism (SNP) of HSG/Mfn2 and hypertension is unclear. Methods: In this study, 542 normotensive subjects (NT group) and 539 hypertensive patients (EH group) were screened for an association study between HSG/Mfn2 and hypertension. Results: The results showed that the genotype

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... n and allelic frequency of rs873457, rs2336384, rs1474868, rs4846085 and rs2236055 were significantly different (P 0.05 for all) between EH and NT groups, although those of rs4240897 and rs873458 were not. When comparing the dominant model, significant differences still existed (P 0.05 for all). The allelic frequency of rs4240897 was also slightly different between EH and NT groups (P 0.047). When subgrouped by sex, the genotype distribution and allelic frequency of all the SNPs (except rs873458) were significantly different in male (P 0.05 for all) but not in female groups. For all the SNPs, only the allelic frequency of rs4240897 was obviously different in female NT and EH groups (P 0.01). Logistic regression showed that body mass index and rs873457 were closely associated with BP after adjusting for age. The frequency of the C-G-A-A-A-C-C haplotype was significantly higher in essential hypertensive patients versus control individuals, both in the entire population, in male or female groups (P 0.01 for all). As for other haplotypes, most were only significantly different in the entire population and male subjects. Conclusion: The genetic variations of HSG/Mfn2 may be associated with hypertension in male Chinese. J Atheroscler Thromb, 2011; 18:24-31.