title: [Genetic susceptibility to the development of acute alcoholic hepatitis: role of genetic mutations in dehydrogenase alcohol, aldehyde dehydrogenase and cytochrome P450 2E1].
abstract: OBJECTIVE
  Analyze the frequencies of genetic mutation in alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1) and establish their possible association with the development of acute alcoholic hepatitis (AAH).
  
  
  METHODS
  Case-control study in a total of 85 Spanish patients. We distinguish three groups (one case group and two control groups) based on hepatic histological lesion and alcohol consumption: controls (group 1: teetotalers; group 2: drinkers without AAH; cases: group 3: drinkers with AAH). Case diagnosis was established based on the presence of polymorphonuclear leukocyte infiltrate in histological study. We analyzed the presence of the genetic mutations R47H and R369C (ADH2), E487K (ALDH2) and mutation Rsa I of CYP2E1 (allele c2) by polymerase chain reaction (PCR) and capillary electrophoresis.
  
  
  RESULTS
  The allele c2 of CYP2E1 was found in 10%, 16% and 50% of the groups 1, 2 and 3 patients, respectively. Presence of the mutation Rsa I showed influence on the development of AAH (odds ratio [OR]: 3.63; confidence interval (95% [CI]: 0.88-15.02).
  
  
  CONCLUSIONS
  The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Gregorio Marañón, Madrid.
authors.forename: A
authors.initials: A
authors.lastname: Segado Soriano
authors.forename: C
authors.initials: C
authors.lastname: Santiago Dorrego
authors.forename: R
authors.initials: R
authors.lastname: Bañares Cañizares
authors.forename: E
authors.initials: E
authors.lastname: Alvarez Fernández
authors.forename: F
authors.initials: F
authors.lastname: Bandrés Moya
authors.forename: F
authors.initials: F
authors.lastname: Gómez-Gallego
mesh_terms: D000208:Acute Disease; D000328:Adult; D000426:Alcohol Dehydrogenase / Q000235:genetics*; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D016022:Case-Control Studies; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006519:Hepatitis, Alcoholic / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D000426:Alcohol Dehydrogenase; D019392:Cytochrome P-450 CYP2E1; D000444:Aldehyde Dehydrogenase