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Related Experiment Videos

TAP1 and TAP2 polymorphism in coeliac disease

S H Powis1, W M Rosenberg, M Hall

  • 1Imperial Cancer Research Fund Laboratories, London, UK.

Immunogenetics
|January 1, 1993
PubMed
Summary

Coeliac disease susceptibility is linked to HLA-DQ2. While TAP1 and TAP2 gene variants were more frequent in patients, they did not independently influence disease risk in this population.

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Area of Science:

  • Immunogenetics
  • Molecular biology
  • Gastroenterology

Background:

  • Coeliac disease is strongly associated with the HLA-DQ2 gene.
  • The major histocompatibility complex (MHC) region contains other genes potentially influencing coeliac disease.
  • TAP1 and TAP2 genes encode proteins involved in antigen presentation.

Purpose of the Study:

  • To investigate the potential role of TAP1 and TAP2 genes in coeliac disease susceptibility.
  • To determine if TAP1A and TAP2A alleles are independently associated with coeliac disease risk.
  • To assess the influence of TAP gene products on coeliac disease in a Northern European Caucasoid population.

Main Methods:

  • Case-control study comparing 81 coeliac disease patients with Caucasoid controls.

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  • Genotyping for TAP1 and TAP2 alleles (TAP1A, TAP2A).
  • Comparison with HLA-DR and -DQ matched controls to assess linkage disequilibrium.
  • Main Results:

    • Alleles TAP1A and TAP2A showed increased frequency in coeliac disease patients compared to general Caucasoid controls.
    • No significant difference in TAP1A and TAP2A frequencies was observed when comparing patients with HLA-DQ2 matched controls.
    • This suggests linkage disequilibrium between TAP1A, TAP2A, and HLA-DQ2.

    Conclusions:

    • TAP1 and TAP2 genes are in linkage disequilibrium with HLA-DQ2 in coeliac disease.
    • TAP gene products do not appear to have a major independent influence on coeliac disease susceptibility or resistance.
    • The primary genetic susceptibility in this population remains strongly linked to HLA-DQ2.