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.
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A Variant in the NEDD4L Gene Associates With Hypertension in Chronic Kidney Disease in the Southeastern Han Chinese Population.
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Genetic variation in NEDD4L, salt sensitivity, and hypertension: human NEDD4L rs4149601 G allele generates evolutionary new isoform I with C2 domain.
J Hypertens
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aDepartment of Clinical Sciences in Malmö, Lund University bDepartment of Internal Medicine, Skåne University Hospital, Malmö, Sweden.
Genetic variation in NEDD4L, salt sensitivity, and hypertension: human NEDD4L rs4149601 G allele generates evolutionary new isoform I with C2 domain.
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Department of Medical Science and Cardio-renal Medicine, Yokohama City University Graduate School of Medicine, Yokohama-city, Kanagawa, Japan.
Genetic variation in NEDD4L, an epithelial sodium channel regulator, is associated with cardiovascular disease and cardiovascular death.
J Hypertens
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aDepartment of Clinical Sciences in Malmö, Lund University bDepartment of Internal Medicine, Skåne University Hospital, Malmö, Sweden.
Objectives: We have previously shown that genetic variance in NEDD4L, a regulating protein of a sodium channel in the distal nephron, has been associated with marginally higher blood pressure and enhanced salt sensitivity. Here, we tested if the genetic NEDD4L variation previously associated with salt sensitivity is related to population blood pressure, incidence of cardiovascular disease (CVD) and mortality.
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School of Biotechnology, Southern Medical University, Guangzhou , Guangdong Province , People's Republic of China .
Genetic variation of NEDD4L has been associated with hypertension and related phenotypes with conflicting results, probably attributable to gender-, age- and ethnicity-related variations in its phenotypic expression. We evaluated the association of three representative polymorphisms in NEDD4L (rs2288774, rs3865418 and rs4149601) with essential hypertension (EH) in a community-based sample of men (n = 1029) and women (n = 869) belonging to Han Chinese, Southern China, to probe whether gender interacts with NEDD4L in contributing to the risk of EH. In this population sample, rs4149601 was excluded from further analysis due to deviation from Hardy-Weinberg equilibrium.
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