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>
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
Similares
MEDLINE
...
LILACS
LIS