[Association between rs4149601 polymorphism and essential hypertension in Kazakh].

OBJECTIVE: To investigate the association between a functional rs4149601 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and essential hypertension in Kazakh. METHODS: In this population-based association study, the genotypes of rs4149601 polymorphism were identified by TaqMan PCR in 883 subjects (male 375 383 hypertensives) and its distribution and relationship to hypertension were studied. The association between haplotype (rs4149601, 296921-296923delTTG, rs2288774 and rs2288775, the last three polymorphisms are representative variations identified from 94 Kazakh hypertensive individuals by screening the functional region of NEDD4L previously) and hypertension was also investigated. RESULTS: The genotype distribution of rs4149601 polymorphism was in Hardy-Weinberg equilibrium. The genotype distribution of rs4149601 polymorphism was similar between the essential hypertension patients and the control individuals (all P > 0.05). In the haplotype-based case-control analysis, the distribution of the haplotypes was not significantly different between the case and the control individuals in total and in male subjects but the frequency of D-C-G-G (296921-3delTTG/rs2288774/rs2288775/rs4149601) haplotype was significantly higher in hypertensive than in control individuals in female (P = 0.026). CONCLUSION: Our results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.