An HLA-DQ alpha allele identified at DNA and protein level is strongly associated with celiac disease.
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.
Roep
B O
BO
Leiden University Hospital, Department of Immunohaematology and Blood Bank, The Netherlands.
Bontrop
R E
RE
Peña
A S
AS
van Eggermond
M C
MC
van Rood
J J
JJ
Giphart
M J
MJ
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
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