title: Lack of correlation between genotype and phenotype in celiac disease.
abstract: BACKGROUND
  Celiac disease has a wide range of clinical features. The goal of this study was to evaluate whether specific HLA genotypes are associated with particular clinical appearances.
  
  
  METHODS
  One hundred forty-five patients with confirmed celiac disease were oligotyped for DR and DQ HLA genes. Clinical notes, physical examination, and a questionnaire provided their personal data. Patients were grouped into nine genotypic categories, according to the presence of the specific DQ heterodimer DQA1*0501-DQB1*0201 (hence termed alpha0beta0), in single or double dose, and the presence of the DRB4 antigen.
  
  
  RESULTS
  Age at first symptoms and age at beginning of gluten-free diet were not significantly different in the nine groups. The initial symptoms of the disease had a similar distribution in all groups. In twenty-seven patients, disease was diagnosed by family screening: they shared a similar HLA genotype with those who had relevant symptoms. The actual growth status-evaluated by standardized height, percentage of median weight for age, and percentage of median weight for height--was not different in the nine groups. Presence of unusual health complaints was not associated with a specific genotype.
  
  
  CONCLUSIONS
  There is no evidence that clinical features of celiac disease are associated with different HLA genotypes. Genes outside the HLA may play a relevant role.
authors.affiliation: Department of Pediatrics, University of Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Greco
authors.forename: S
authors.initials: S
authors.lastname: Percopo
authors.forename: F
authors.initials: F
authors.lastname: Clot
authors.forename: F
authors.initials: F
authors.lastname: Bouguerra
authors.forename: M C
authors.initials: MC
authors.lastname: Babron
authors.forename: J F
authors.initials: JF
authors.lastname: Eliaou
authors.forename: C
authors.initials: C
authors.lastname: Franzese
authors.forename: R
authors.initials: R
authors.lastname: Troncone
authors.forename: F
authors.initials: F
authors.lastname: Clerget-Darpoux
mesh_terms: D001827:Body Height; D001835:Body Weight; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D019281:Dimerization; D005260:Female; D018628:Gene Dosage; D005838:Genotype; D006128:Growth; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D006801:Humans; D010641:Phenotype
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens