Open AccessSpecific hla‐dqa and hla‐drb1 alleles confer susceptibility to sjögren's syndrome and autoantibody production
Author(s) -
Fei Hong Ming,
Kang Hoil,
Peebles Carol,
Fox Robert,
Scharf Stephen,
Erlich Henry
Publication year - 1991
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.1860050604
Subject(s) - autoantibody , immunology , human leukocyte antigen , serology , hypergammaglobulinemia , loss of heterozygosity , pathogenesis , medicine , allele , biology , antibody , antigen , gene , genetics
Primary Sjögren's syndrome (1° SS) is a systemic autoimmune disease characterized by lymphocytic infiltration of the salivary glands and autoantibody production. In order to identify genetic factors that play a role in pathogenesis and predict extent of disease, we used Southern blot and polymerase chain reaction (PCR) methods to detect polymorphisms of the HLA‐DRB1 (DR), HLA‐DRB3 (DRw52), and HLA‐DQA1 genes among 75 Caucasoid 1° SS patients and 150 Caucasoid controls living in the same geographic region of Southern California. We found significantly increased frequency of HLA‐DR3 ( P < .001), HLA‐DW52a ( P < .001), and HLA‐DQA4 ( P < .05), in comparison to normal controls. Also, an increased frequency of heterozygosity for HLA‐DQA1/DQA4( P < .05) was present among 1° SS patients. Autoantibodies to SS‐A and to SS‐B were significantly associated with DR3 ( P < .001), HLA‐DQA4, ( P < .05), and DQA4/DQA1 heterozygotes ( P < .01). Among the 1° SS patients, clinical and laboratory features such as hypergammaglobulinemia, symmetric peripheral neuropathy, and hypothyroidism were significantly associated with HLA‐DR3 ( P < .01) but not with HLA‐DR2 ( P > .10). In comparison, 1° SS patients with leukocytoclastic vasculitis were more frequently HLA‐DR2 ( P < .05). These results using PCR methods confirm and extend prior studies that have used serologic methods.