title: An HLA-DQ alpha allele identified at DNA and protein level is strongly associated with celiac disease.
abstract: An HLA-DQ alpha cDNA probe showed upon hybridization a highly significant discrepancy between the RFLP of celiac disease patients and healthy controls. The 4.0-kb Bgl II restriction fragment was present in 97% of celiac disease patients (n = 30), compared to 56% in a healthy control population (n = 72) (RR = 14.9; p less than 0.0005). At the product level all celiac disease patients tested to date have one DQ alpha chain in common, designated HLA-DQ alpha 2.3, which is associated with the 4.0-kb Bgl II fragment. This HLA-DQ alpha allele identified at the DNA level and product level seems to be a better marker for genetic susceptibility to develop celiac disease than those available to date.
authors.affiliation: Leiden University Hospital, Department of Immunohaematology and Blood Bank, The Netherlands.
authors.forename: B O
authors.initials: BO
authors.lastname: Roep
authors.forename: R E
authors.initials: RE
authors.lastname: Bontrop
authors.forename: A S
authors.initials: AS
authors.lastname: Peña
authors.forename: M C
authors.initials: MC
authors.lastname: van Eggermond
authors.forename: J J
authors.initials: JJ
authors.lastname: van Rood
authors.forename: M J
authors.initials: MJ
authors.lastname: Giphart
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics / Q000276:immunology*; D015342:DNA Probes; D005819:Genetic Markers; D006681:HLA-D Antigens / Q000235:genetics*; D000949:Histocompatibility Antigens Class II; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; C416186:H-2O antigen; D006681:HLA-D Antigens; C046148:HLA-DO antigens; D000949:Histocompatibility Antigens Class II; D011506:Proteins