Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 679-685, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-301627
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>The NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Estudos de Casos e Controles
/
China
/
Ubiquitina-Proteína Ligases
/
Povo Asiático
/
Complexos Endossomais de Distribuição Requeridos para Transporte
/
Ubiquitina-Proteína Ligases Nedd4
/
Genética
/
Hipertensão
/
Grupos Minoritários
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2009
Tipo de documento:
Artigo
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