[Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension].
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.
Guo
Yan-ying
YY
Department of Hypertension, the People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
Li
Nan-fang
NF
Yao
Xiao-guang
XG
Wang
Hong-mei
HM
Yang
Jin
J
Zhou
Ling
L
Luo
Wen-li
WL
Hong
Jing
J
Yang
Jing-jing
JJ
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*
D056827:Endosomal Sorting Complexes Required for Transport; D000075702:Nedd4 Ubiquitin Protein Ligases; C000618483:Nedd4 protein, human; D044767:Ubiquitin-Protein Ligases