Specific HLA-DQA and HLA-DRB1 alleles confer susceptibility to Sjögren's syndrome and autoantibody production

J Clin Lab Anal. 1991;5(6):382-91. doi: 10.1002/jcla.1860050604.

Abstract

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 less than .001), HLA-DW52a (P less than .001), and HLA-DQA4 (P less than .05), in comparison to normal controls. Also, an increased frequency of heterozygosity for HLA-DQA1/DQA4 (P less than .05) was present among 1. SS patients. Autoantibodies to SS-A and to SS-B were significantly associated with DR3 (P less than .001), HLA-DQA4, (P less than .05), and DQA4/DQA1 heterozygotes (P less than .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 less than .01) but not with HLA-DR2 (P greater than .10). In comparison, 1. SS patients with leukocytoclastic vasculitis were more frequently HLA-DR2 (P less than .05). These results using PCR methods confirm and extend prior studies that have used serologic methods.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Autoantibodies / biosynthesis
  • Base Sequence
  • Child
  • DNA / genetics
  • Female
  • Genes, MHC Class II
  • HLA-DQ Antigens / genetics*
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • HLA-DRB3 Chains
  • Histocompatibility Antigens Class II / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Sjogren's Syndrome / genetics
  • Sjogren's Syndrome / immunology*

Substances

  • Autoantibodies
  • HLA-DQ Antigens
  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • HLA-DRB3 Chains
  • Histocompatibility Antigens Class II
  • Oligonucleotide Probes
  • DNA