Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease

Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease

Author Marques Souza Oliveira, Claudia Pinto Google Scholar
Stefano, Jose Tadeu Google Scholar
Cavaleiro, Ana Mercedes Google Scholar
Henriques Zanella Fortes, Maria Angela Google Scholar
Vieira, Suzana Maria Google Scholar
Rodrigues Lima, Vicencia Mara Google Scholar
Santos, Telma Eugenio Google Scholar
Santos, Virginia Nascimento Autor UNIFESP Google Scholar
Farias de Azevedo Salgado, Ana Lucia Autor UNIFESP Google Scholar
Parise, Edson Roberto Autor UNIFESP Google Scholar
Ferreira Alves, Venancio Avancini Google Scholar
Carrilho, Flair Jose Google Scholar
Correa-Giannella, Maria Lucia Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords fatty liver
genetic susceptibility
genetic polymorphisms
microsomal TG transfer protein
lipid metabolism
glutamate-cystein ligase
glutathione
oxidative stress
Language English
Date 2010-02-01
Published in Journal of Gastroenterology and Hepatology. Malden: Wiley-Blackwell Publishing, Inc, v. 25, n. 2, p. 357-361, 2010.
ISSN 0815-9319 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 357-361
Origin http://dx.doi.org/10.1111/j.1440-1746.2009.06001.x
Access rights Closed access
Type Article
Web of Science ID WOS:000274184500024
URI http://repositorio.unifesp.br/handle/11600/32251

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