title: Human leukocyte antigen DQ2.2 and celiac disease.
abstract: Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA1*05:01, DQB1*02:01) or trans (DQA1*05:05, DQB1*02:02) configuration and HLA-DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA-distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA-DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA-DQ8. Interestingly, the 9 (5.8%) patients lacking HLA-DQ2.5 and HLA-DQ8 carried HLA-DQA1*02:01 and -DQB1*02:02 (HLA-DQ2.2). Therefore, HLA-DQ2.2 should be included as an important HLA-type related to CD.
authors.affiliation: Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands. A.Mubarak@umcutrecht.nl
authors.forename: Amani
authors.initials: A
authors.lastname: Mubarak
authors.forename: Eric
authors.initials: E
authors.lastname: Spierings
authors.forename: Victorien
authors.initials: V
authors.lastname: Wolters
authors.forename: Ingrid
authors.initials: I
authors.lastname: van Hoogstraten
authors.forename: C M Frank
authors.initials: CM
authors.lastname: Kneepkens
authors.forename: Roderick
authors.initials: R
authors.lastname: Houwen
mesh_terms: D000483:Alleles; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D002446:Celiac Disease / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D002648:Child; D015331:Cohort Studies; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D059848:HLA-DQ alpha-Chains / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D059866:HLA-DQ beta-Chains / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000276:immunology / Q000378:metabolism*; D008297:Male; D009426:Netherlands; D011446:Prospective Studies; D020033:Protein Isoforms / Q000097:blood / Q000235:genetics / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; 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; D020033:Protein Isoforms