title: [Association between rs4149601 polymorphism and essential hypertension in Kazakh].
abstract: 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).
  
  
  CONCLUSIONS
  Our results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.
authors.affiliation: Department of Hypertension, Hypertension Institute of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
authors.forename: Hong-mei
authors.initials: HM
authors.lastname: Wang
authors.forename: Nan-fang
authors.initials: NF
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Hong
authors.forename: Xiao-guang
authors.initials: XG
authors.lastname: Yao
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Luo
authors.forename: Jian-hang
authors.initials: JH
authors.lastname: Chang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000075702:Nedd4 Ubiquitin Protein Ligases; D009474:Neurons; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; D000075702:Nedd4 Ubiquitin Protein Ligases; C000618485:Nedd4L protein, human; D044767:Ubiquitin-Protein Ligases