Gender-specific association between Apelin/APJ gene polymorphisms and hypertension risk in Southeast China

Abstract To explore the role of genetic factors in the pathogenesis of hypertension, our study investigated the gender-specific association between four polymorphisms in the Apelin / APJ gene and hypertension risk in southeastern Chinese population. All participants including 645 hypertensive patients and 362 normotensive controls were genotyped for 4 gene polymorphisms associated with hypertension susceptibility including Apelin (rs909656, rs5975126) and APJ (rs10501367, rs11544374). According to genotype analysis, for male subjects, the frequencies of genotypes ( P  = 0.046 and 0.046, respectively) of rs10501367 and rs11544374 revealed significant differences between the hypertension and control groups. Moreover, for female subjects, there was significant difference on the genotype distribution of rs11544374 between two groups ( P  = 0.046). The association of rs10501367 with hypertension was significant for males under additive models and recessive models, even after adjusting for age, BMI, fasting glucose and waistline. Besides, significant association was observed for rs11544374 in females under additive models. As for haplotype analysis, haplotype T-A (in order of rs10501367 and rs11544374) in APJ gene was marginally overrepresented in controls (17.9%) compared to patients with hypertension (11.6%) in males ( P  = 0.003). The mutation of polymorphism rs10501367 in APJ gene decreased risk of hypertension in Chinese males.