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Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease.
J Gastroenterol Hepatol ; 25(2): 357-61, 2010 Feb.
Article em En | MEDLINE | ID: mdl-19817962
BACKGROUND AND AIMS: Although the metabolic risk factors for non-alcoholic fatty liver disease (NAFLD) progression have been recognized, the role of genetic susceptibility remains a field to be explored. The aim of this study was to examine the frequency of two polymorphisms in Brazilian patients with biopsy-proven simple steatosis or non-alcoholic steatohepatitis (NASH): -493 G/T in the MTP gene, which codes the protein responsible for transferring triglycerides to nascent apolipoprotein B, and -129 C/T in the GCLC gene, which codes the catalytic subunit of glutamate-cystein ligase in the formation of glutathione. METHODS: One hundred and thirty-one biopsy-proven NAFLD patients (n = 45, simple steatosis; n = 86, NASH) and 141 unrelated healthy volunteers were evaluated. Genomic DNA was extracted from peripheral blood cells, and the -129 C/T polymorphism of the GCLC gene was determined by restriction fragment length polymorphism (RFLP). The -493 G/T polymorphism of the MTP gene was determined by direct sequencing of the polymerase chain reaction products. RESULTS: The presence of at least one T allele in the -129 C/T polymorphism of the GCLC gene was independently associated with NASH (odds ratio 12.14, 95% confidence interval 2.01-73.35; P = 0.007), whereas, the presence of at least one G allele in the -493 G/T polymorphism of the MTP gene differed slightly between biopsy-proven NASH and simple steatosis. CONCLUSION: This difference clearly warrants further investigation in larger samples. These two polymorphisms could represent an additional factor for consideration in evaluating the risk of NAFLD progression. Further studies involving a larger population are necessary to confirm this notion.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Proteínas de Transporte / Fígado Gorduroso / Glutamato-Cisteína Ligase Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Brasil Idioma: En Ano de publicação: 2010 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Proteínas de Transporte / Fígado Gorduroso / Glutamato-Cisteína Ligase Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Brasil Idioma: En Ano de publicação: 2010 Tipo de documento: Article