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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Polymorphisme génétique
/
Études cas-témoins
/
Chine
/
Ubiquitin-protein ligases
/
Asiatiques
/
Complexes de tri endosomique requis pour le transport
/
Ubiquitine protéine ligases NEDD4
/
Génétique
/
Hypertension artérielle
/
Minorités
Type d'étude:
Étude observationnelle
/
Facteurs de risque
Limites du sujet:
Adulte
/
Adulte très âgé
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Acta Academiae Medicinae Sinicae
Année:
2009
Type:
Article
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