title: Distribution of HLA-DPB1, -DQB1 -DQA1 alleles among Sardinian celiac patients.
abstract: The Sardinian population in many aspects differs from other Caucasoid populations, particularly for its degree of homogeneity. For this reason we have studied 50 adult Sardinian patients with celiac disease (CD) and 50 control healthy Sardinian individuals by RFLP analysis and by extensive oligotyping for 17 HLA-DPB1, 8-DQB1 and 9-DQA1 alleles, and established their -DPB1 alleles and -DQB1 -DQA1 genotypes. The heterodimer HLA-DQB1*0201/-DQA1*0501, present in 96% of our patients, is strongly associated with CD susceptibility, confirming published reports. On the other hand we found in 11 of 50 probands (22%) the presence of the allele -DQB1*0502/DQA1*0102. This genotype is extremely rare in other Caucasian populations and appears to confer limited protection in CD Sardinian patients.
authors.affiliation: Istituto di Medicina Interna, University of Cagliari, Italy.
authors.forename: M F
authors.initials: MF
authors.lastname: Boy
authors.forename: G
authors.initials: G
authors.lastname: La Nasa
authors.forename: A
authors.initials: A
authors.lastname: Balestrieri
authors.forename: M V
authors.initials: MV
authors.lastname: Cherchi
authors.forename: P
authors.initials: P
authors.lastname: Usai
mesh_terms: D000328:Adult; D000483:Alleles; D002446:Celiac Disease / Q000208:ethnology* / Q000276:immunology*; D005260:Female; D005838:Genotype; D006682:HLA-DP Antigens / Q000032:analysis* / Q000235:genetics; D059868:HLA-DP beta-Chains; D006683:HLA-DQ Antigens / Q000032:analysis* / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values
chemical_list: D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen