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Polymorphism of NOS2A promoter -969(G>C) is associated with portal hypertension of liver cirrhosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 591-595, 2004.
Artigo em Chinês | WPRIM | ID: wpr-321188
ABSTRACT
<p><b>OBJECTIVE</b>To determine whether polymorphism of NOS2A promoter -969G>C is associated with the portal hypertension of liver cirrhosis.</p><p><b>METHODS</b>A case control study covering 106 patients with liver cirrhosis due to hepatitis B virus(HBV) in comparison with 108 controls was performed using PCR-restriction fragment length polymorphism. The NOS2A mRNA and protein expression in liver cirrhosis tissues were detected by reverse transcription-PCR and Western blot. The recombinant plasmids of NOS2A promoter luciferase reporter gene were constructed and were transfected transiently into HepG2 cells for analyzing the functional activity of the promoter.</p><p><b>RESULTS</b>The frequencies of the C allele and GC genotype at NOS2A promoter -969G>C were significantly higher in portal hypertension group (16.9%, 33.8%) than in control group(8.8%, 17.6%)(P<0.05), and positive correlation (r=0.18) and association (OR=2.42) were noted. There was no significant difference in frequency distribution between single liver cirrhosis group and control group(P>0.05). The expressions of NOS2A mRNA and protein in liver cirrhosis tissues were more increased in C allele carriers with liver cirrhosis than in G allele carriers with liver cirrhosis, which led to higher functional activity of the promoter. Multivariate logistic regression analysis revealed that NOS2A polymorphism at promoter -969G>C is an independent novel risk factor for the occurrence of portal hypertension in patients with liver cirrhosis.</p><p><b>CONCLUSION</b>The polymorphism of NOS2A promoter -969(G>C) is associated with portal hypertension of liver cirrhosis, which results in functional activity increase of NOS2A promoter and is an independent risk factor for portal hypertension.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fibrose / Polimorfismo de Fragmento de Restrição / RNA Mensageiro / Reação em Cadeia da Polimerase / Regiões Promotoras Genéticas / Óxido Nítrico Sintase / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Frequência do Gene / Genética Tipo de estudo: Estudo observacional / Fatores de risco Limite: Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2004 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fibrose / Polimorfismo de Fragmento de Restrição / RNA Mensageiro / Reação em Cadeia da Polimerase / Regiões Promotoras Genéticas / Óxido Nítrico Sintase / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Frequência do Gene / Genética Tipo de estudo: Estudo observacional / Fatores de risco Limite: Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2004 Tipo de documento: Artigo