title: Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children.
abstract: OBJECTIVE
  Polymorphisms in the promoter of microsomal triglyceride transfer protein (MTP) lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in determining susceptibility to nonalcoholic steatohepatitis (NASH). The aim of this study is to examine the effect of some genetic influences among a group of obese Egyptian children.
  
  
  METHODS
  A cross-sectional study was conducted on 76 overweight and obese children presenting to the Pediatric Endocrinology Unit, Cairo University Children's Hospital, Egypt, as well as on 20 healthy controls. Anthropometric measurements were taken for all the patients and they underwent clinical examination, ultrasonographic examination of the liver, and liver biopsy when appropriate. Liver functions, blood glucose, serum insulin, C-peptide, and lipid profile were assessed and HOMA-IR calculated. Blood samples from biopsy-proven NASH patients and controls were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism for the -493 G/T polymorphism in the promoter of MTP and the 1183 T/C polymorphism in the mitochondrial targeting sequence of manganese superoxide dismutase (MnSOD).
  
  
  RESULTS
  Eight had biopsy-proven simple steatosis and 7 had NASH. NASH patients had a much higher incidence of the MTP G/G genotype (P = 0.002, CI: 2.9-392) compared with the controls. NASH patients also had a 100% prevalence of the MnSOD T/T genotype.
  
  
  CONCLUSIONS
  Certain genotypes in MTP and MnSOD are significantly more prevalent among obese children with NASH and may be responsible for such a phenotype.
authors: Department of Pediatrics, Cairo University, Egypt. elkoufynehal@yahoo.com
authors: Nehal M
authors: NM
authors: El-Koofy
authors: Hanaa M
authors: HM
authors: El-Karaksy
authors: Iman M
authors: IM
authors: Mandour
authors: Ghada M
authors: GM
authors: Anwar
authors: Mona S
authors: MS
authors: El-Raziky
authors: Ahmad M
authors: AM
authors: El-Hennawy
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D015992:Body Mass Index; D002096:C-Peptide / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004534:Egypt / Q000453:epidemiology; D005234:Fatty Liver / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D015994:Incidence; D007333:Insulin Resistance / Q000235:genetics; D008111:Liver Function Tests; D008297:Male; D065626:Non-alcoholic Fatty Liver Disease; D009765:Obesity / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012016:Reference Values; D018570:Risk Assessment; D012720:Severity of Illness Index; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D002096:C-Peptide; D002352:Carrier Proteins; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2; C106092:microsomal triglyceride transfer protein