title: [Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension].
abstract: OBJECTIVE
  To analyze the association between the genetic variations of functional region in neural precursor cell expressed developmentally down-regulated 4 ( NEDD4) gene and hypertension in Kazak Chinese in Xinjiang Uygur Autonomous Region.
  
  
  METHODS
  The sequences of NEDD4 gene functional region (all exons, exon-intron boundaries, and the putative promoter region, including the 5'- and 3'-untranslated regions 1 kb) were sequenced in Kazak Chinese patients with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 938 Kazak individuals, including 451 hypertensive patients and 487 normotensive subjects. The association between genetic variations of NEDD4 and hypertension in Kazak was analyzed.
  
  
  RESULTS
  Thirteen novel and 15 known single nucleotide polymorphism (SNPs) or mutations, including 7 missense mutations, were identified at the function region of NEDD4 gene in 94 Kazak patients with hypertension. In the nine representative variations genotyped, 4 rare missense mutations [77291T>G (S189R), 77748 C>T (R342W), 123925C>T (P152L), rs1912403 (76821A>G, M33V)] were not specific for the prevalence of hypertension; in addition, the distribution of 5 common SNPs [77943A>C (N407H), rs2303580 (132882G>A, R607Q), rs8028559 (154845T>C), rs7162435 (164420A>G), and rs11550869 (165622C>G)] and haplotypes were not significantly different between the hypertensive patients and normotensive subjects (P>0.05).
  
  
  CONCLUSIONS
  The NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.
authors.affiliation: Department of Hypertension, the People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
authors.forename: Yan-ying
authors.initials: YY
authors.lastname: Guo
authors.forename: Nan-fang
authors.initials: NF
authors.lastname: Li
authors.forename: Xiao-guang
authors.initials: XG
authors.lastname: Yao
authors.forename: Hong-mei
authors.initials: HM
authors.lastname: Wang
authors.forename: Jin
authors.initials: J
authors.lastname: Yang
authors.forename: Ling
authors.initials: L
authors.lastname: Zhou
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Luo
authors.forename: Jing
authors.initials: J
authors.lastname: Hong
authors.forename: Jing-jing
authors.initials: JJ
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008913:Minority Groups; D000075702:Nedd4 Ubiquitin Protein Ligases; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; D000075702:Nedd4 Ubiquitin Protein Ligases; C000618483:Nedd4 protein, human; D044767:Ubiquitin-Protein Ligases