title: HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.
abstract: Celiac disease (CD) has a strong genetic association with human leukocyte antigens (HLA). The primary susceptibility for CD is HLA-DQA1*05 DQB1*02 (also known as DQ2), with the remainder of cases primarily HLA-DQA1*03 DQB1*03 (also known as DQ8). In a set of nine Bedouin multiplex celiac disease families and one simplex, we genotyped DNA samples at HLA DQA1 and DQB1. Nineteen celiac disease patients had at least one DQA1*05 DQB1*02 genotype (= DQ2), 4 affecteds had the second most common genotype of DQA1*03 DQB1*0302 (= DQ8), 9 were DQ2 and DQ8, and 4 had at least one copy of DQB1*02 without the DQA1*05 genotype. Using transmission disequilibrium testing, we observed a significant over-representation in affecteds of the DQA1*05 DQB1*02 genotype (p = 0.0089), as well as over-representation of the DQA1*03 DQB1*0302 genotype (p = 0.078). The HLA DQA1 DQB1 high-risk genotypes associated with celiac disease are similar in these Bedouin families with CD to what is observed in Northern and Southern Europeans.
authors.affiliation: Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA. susan@genepi.med.utah.edu
authors.forename: Susan L
authors.initials: SL
authors.lastname: Neuhausen
authors.forename: Zvi
authors.initials: Z
authors.lastname: Weizman
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp
authors.forename: Khalil
authors.initials: K
authors.lastname: Elbedour
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: John J
authors.initials: JJ
authors.lastname: Zone
authors.forename: Rivka
authors.initials: R
authors.lastname: Carmi
mesh_terms: D000483:Alleles; D018912:Arabs / Q000235:genetics*; D002446:Celiac Disease / Q000208:ethnology* / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000032:analysis / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006239:Haplotypes; D006801:Humans
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen