Association of polymorphisms in glutamate-cysteine ligase catalytic subunit and microsomal triglyceride transfer protein genes with nonalcoholic fatty liver disease

DNA Cell Biol. 2011 Aug;30(8):569-75. doi: 10.1089/dna.2010.1162. Epub 2011 Mar 25.

Abstract

Genetic and environmental factors are important for the development of nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to examine the single nucleotide polymorphism (SNP) -129C/T (rs17883901) in glutamate-cysteine ligase catalytic subunit (GCLC) and SNPs I128T (rs3816873) and Q95H (rs61733139) in microsomal triglyceride transfer protein (MTTP) in NAFLD. Eighty-three patients with a diagnosis of NAFLD and 93 healthy subjects were included in the study. Tetra amplification refractory mutation system-polymerase chain reaction was designed to detect the SNPs. There were no significant differences in the polymorphism of -129C/T (rs17883901) of the GCLC gene among NAFLD and control groups (p > 0.05). A significant difference was observed between NAFLD and control group regarding the SNP I128T (rs3816873) in the coding region of the MTTP gene (p < 0.05). The CT genotype increased susceptibility to NAFLD (OR: 2.467; 95% CI: 1.253-4.854; p = 0.008). No significant difference was found among the groups regarding the SNP in the coding region of MTTP gene Q95H (rs61733139). In conclusion, MTTP rs3816873 polymorphism might be a candidate to determine susceptibility to NAFLD. Larger studies are necessary to confirm these findings in various populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Catalytic Domain / genetics*
  • Fatty Liver / enzymology*
  • Fatty Liver / genetics*
  • Female
  • Genotype
  • Glutamate-Cysteine Ligase / chemistry*
  • Glutamate-Cysteine Ligase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Non-alcoholic Fatty Liver Disease
  • Polymorphism, Single Nucleotide*
  • Young Adult

Substances

  • Carrier Proteins
  • microsomal triglyceride transfer protein
  • Glutamate-Cysteine Ligase