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HLA and autoimmunity in scleroderma (systemic sclerosis)

F C Arnett1

  • 1Department of Internal Medicine, University of Texas-Houston Health Science Center 77030, USA.

International Reviews of Immunology
|January 1, 1995
PubMed
Summary

Major histocompatibility complex (MHC) alleles, particularly HLA-DQ, are strongly linked to specific autoantibodies in systemic sclerosis (SSc). These findings refine our understanding of SSc

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Systemic sclerosis (SSc) associations with human leukocyte antigen (HLA) class II antigens (e.g., HLA-DR) were previously weak and inconsistent across populations.
  • Recent discoveries include disease-specific autoantibodies (anti-centromere, anti-topoisomerase I, anti-nucleolar) that correlate with distinct SSc clinical features.
  • Advances in molecular MHC studies allow for precise HLA allele identification.

Purpose of the Study:

  • To investigate the association between specific HLA class II alleles and autoantibody subsets in systemic sclerosis (SSc).
  • To clarify the role of HLA alleles in the serological expression and clinical manifestations of SSc.

Main Methods:

  • Analysis of HLA class II alleles, focusing on HLA-DQ, in SSc patients.
  • Correlation of specific HLA-DQB1 alleles with the presence of anti-centromere and anti-topoisomerase I autoantibodies.
  • Examination of linkage disequilibrium between HLA-DQ and HLA-DR alleles.
  • Review of multiplex families for co-segregation of HLA haplotypes and autoantibody profiles.

Main Results:

  • Specific HLA-DQB1 alleles are strongly associated with autoantibody subsets in SSc, more so than with SSc itself.
  • Anti-centromere antibodies correlate with HLA-DQB1 alleles like DQB1*0501 (DQ5) and DQB1*0301 (DQ7), particularly those with glycine or tyrosine at position 26.
  • Anti-topoisomerase I antibodies are associated with HLA-DQB1*0301 (DQ7), DQB1*0302 (DQ8), and DQB1*0601 (DQ6), especially those with tyrosine at position 30.
  • These associated HLA-DQ alleles are often in linkage disequilibrium with previously identified weak HLA-DR associations for SSc.

Conclusions:

  • HLA class II alleles, especially HLA-DQ, play a significant role in determining the autoantibody profile in systemic sclerosis.
  • These findings provide a more refined understanding of the genetic underpinnings of SSc serological heterogeneity.
  • The strong associations suggest that specific HLA alleles may influence the development of particular autoantibodies in SSc.

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