Lack of correlation between genotype and phenotype in celiac disease.
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.
Greco
L
L
Department of Pediatrics, University of Naples, Italy.
Percopo
S
S
Clot
F
F
Bouguerra
F
F
Babron
M C
MC
Eliaou
J F
JF
Franzese
C
C
Troncone
R
R
Clerget-Darpoux
F
F
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
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