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Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children

Nehal M El-Koofy1, Hanaa M El-Karaksy, Iman M Mandour

  • 1Department of Pediatrics, Cairo University, Egypt. elkoufynehal@yahoo.com

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association
|July 6, 2011
PubMed

Insights

Genetic factors, specifically certain genotypes of microsomal triglyceride transfer protein (MTP) and manganese superoxide dismutase (MnSOD), are linked to nonalcoholic steatohepatitis (NASH) in obese Egyptian children.

Area of Science:

  • Genetics
  • Pediatrics
  • Hepatology

Background:

  • Polymorphisms in the microsomal triglyceride transfer protein (MTP) gene promoter can impair triglyceride export from hepatocytes, leading to fat accumulation.
  • This intracellular triglyceride accumulation suggests a potential role for MTP gene variations in nonalcoholic steatohepatitis (NASH) susceptibility.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms in MTP and manganese superoxide dismutase (MnSOD) and the development of NASH in obese Egyptian children.
  • To examine genetic influences on NASH pathogenesis in a pediatric cohort.

Main Methods:

  • A cross-sectional study involving 76 obese/overweight children and 20 healthy controls.
  • Clinical, anthropometric, and ultrasonographic assessments, including liver biopsy for diagnosis.
  • Polymerase chain reaction and restriction fragment length polymorphism analysis for MTP (-493 G/T) and MnSOD (1183 T/C) gene polymorphisms in biopsy-proven NASH patients and controls.

Main Results:

  • NASH was diagnosed in 7 out of 76 children; 8 had simple steatosis.
  • A significantly higher incidence of the MTP G/G genotype was observed in NASH patients compared to controls (P = 0.002).
  • All NASH patients exhibited the MnSOD T/T genotype.

Conclusions:

  • Specific genotypes of MTP and MnSOD are significantly associated with NASH in obese Egyptian children.
  • These genetic variations may contribute to the development of the NASH phenotype in this population.
Abstract

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