HLA-DQ beta-chain polymorphism linked to myasthenia gravis.
The HLA-DR3 haplotype is associated with increased risk of myasthenia gravis (MG) and a number of other autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM), coeliac disease, and premature ovarian failure (POF). With a cDNA probe for a DQ beta gene, a 15 kb Hinc II restriction fragment has been demonstrated in genomic DNA from 7 of 16 HLA-DR3 patients with MG, 1 of 19 healthy DR3 controls, and none of 24 DR3 patients with IDDM, coeliac disease, or POF. The HLA-DQ polymorphism may be closely linked to a genetic locus regulating immune responsiveness to acetylcholine receptor and susceptibility to MG.
Bell
J
J
Rassenti
L
L
Smoot
S
S
Smith
K
K
Newby
C
C
Hohlfeld
R
R
Toyka
K
K
McDevitt
H
H
Steinman
L
L
D002446:Celiac Disease / Q000235:genetics; D004262:DNA Restriction Enzymes; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006683:HLA-DQ Antigens; D015803:HLA-DR3 Antigen; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D006824:Hybridization, Genetic; D009157:Myasthenia Gravis / Q000235:genetics*; D010049:Ovarian Diseases / Q000235:genetics; D011110:Polymorphism, Genetic
D005819:Genetic Markers; D006683:HLA-DQ Antigens; D015803:HLA-DR3 Antigen; D000949:Histocompatibility Antigens Class II; D004262:DNA Restriction Enzymes