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Related Experiment Videos

TAP2 polymorphisms in Australian multiple sclerosis patients

B H Bennetts1, S M Teutsch, R N Heard

  • 1Department of Immunology, Westmead Hospital, Sydney, Australia.

Journal of Neuroimmunology
|June 1, 1995
PubMed
Summary
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Polymorphism in the TAP2 gene was studied in multiple sclerosis (MS) patients. While TAP2 is not a necessary MS susceptibility gene, it is linked to the DRB1*1501 haplotype, suggesting a nearby MS gene.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Neuroimmunology

Background:

  • The TAP2 gene locus is near MHC class II genes and plays a role in antigen presentation.
  • Multiple sclerosis (MS) is associated with specific HLA alleles, particularly DRB1*1501.
  • Linkage disequilibrium (LD) may explain the association between MS and the TAP2 locus.

Purpose of the Study:

  • To investigate the polymorphism of the TAP2 gene in Australian MS patients.
  • To determine if TAP2 is a susceptibility gene for MS, either functionally or via LD.
  • To correlate TAP2 genotypes with HLA class I and class II phenotypes.

Main Methods:

  • Examined TAP2 gene polymorphism in 100 MS patients and 237 controls.
  • Correlated TAP2 results with HLA class I and class II phenotypes.

Related Experiment Videos

  • Analyzed linkage disequilibrium between TAP2 and HLA alleles.

    • Main Results:

    • Strong LD was observed between TAP2*01 and DRB1*1501 in both MS patients and controls.
    • The MS-associated haplotype was extended to include TAP2*01.
    • TAP2 typing did not explain DRB1*1501-negative MS patients, where TAP2*01 frequency was decreased.

    Conclusions:

    • The TAP2 gene locus is excluded as a necessary gene for MS susceptibility.
    • An MS susceptibility gene may be located centromeric to the DQ locus, carried by the DRB1*1501, DQA1*0102, DQB1*0602 haplotype.