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Spondyloarthropathies in eastern Asia.

T E Feltkamp1, A Mardjuadi, F Huang

  • 1University of Amsterdam, the Netherlands. feltkamp@planet.nl

Current Opinion in Rheumatology
|September 14, 2001
PubMed
Summary

The HLA-B27 gene is linked to spondyloarthropathies (SpAs), but specific subtypes like B*2706 are not associated with SpA. Differences in amino acid residues influence disease association and have clinical implications for diagnosis.

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • The Human Leukocyte Antigen B27 (HLA-B27) gene is strongly associated with spondyloarthropathies (SpAs), suggesting a pathogenic role for the HLA-B27 molecule.
  • Global frequencies of HLA-B27 and its subtypes vary significantly, correlating with differing SpA prevalence across populations (e.g., Whites, Chinese, Japanese, Indonesians).

Purpose of the Study:

  • To investigate the differential association of HLA-B27 subtypes with SpA across diverse ethnic groups.
  • To identify specific molecular differences in HLA-B27 subtypes that may explain variations in SpA pathogenesis and clinical presentation.

Main Methods:

  • Analysis of HLA-B27 subtype distribution in SpA patients and healthy individuals across different global populations.
  • Comparison of amino acid sequences of SpA-associated and non-associated HLA-B27 subtypes, focusing on the peptide-binding groove.

Main Results:

  • While HLA-B27 is prevalent in many populations, SpA is rare in native Indonesians, who predominantly carry the B*2706 subtype, which is not associated with SpA.
  • The SpA-associated subtypes differ from non-associated ones (like B*2706) by only two amino acid residues at positions 114 and 116 in the peptide-binding groove.
  • HLA-B27 subtyping is crucial for clinical utility in Southeast Asia, unlike in regions where B*2706 is rare. Juvenile SpA is common in Chinese populations.

Conclusions:

  • The specific amino acid variations within HLA-B27 subtypes significantly influence SpA association, highlighting the importance of peptide-binding groove interactions in disease pathogenesis.
  • Clinical implications include the necessity of HLA-B27 subtyping for accurate diagnosis in certain ethnic groups, particularly in Southeast Asia.

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