Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension.
- Author:
Yan-ying GUO
1
;
Nan-fang LI
;
Xiao-guang YAO
;
Hong-mei WANG
;
Jin YANG
;
Ling ZHOU
;
Wen-li LUO
;
Jing HONG
;
Jing-jing YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Asian Continental Ancestry Group; genetics; Case-Control Studies; China; Endosomal Sorting Complexes Required for Transport; genetics; Female; Humans; Hypertension; genetics; Male; Middle Aged; Minority Groups; Nedd4 Ubiquitin Protein Ligases; Polymorphism, Genetic; Ubiquitin-Protein Ligases; genetics
- From: Acta Academiae Medicinae Sinicae 2009;31(6):679-685
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSThe 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.
RESULTSThirteen 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).
CONCLUSIONThe NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.
