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Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

I Vorechovsky1, J Kralovicova, E Tchilian

  • 1University College London Royal Free Campus, UK. igvo@cbt.ki.se

Nature Genetics
|September 11, 2001
PubMed

Insights

The 77G allele in the protein tyrosine phosphatase receptor-type C gene (PTPRC) is not linked to multiple sclerosis (MS) or other autoimmune diseases. This study found no increased susceptibility associated with this PTPRC gene polymorphism.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Autoimmune Disease Research

Background:

  • The protein tyrosine phosphatase receptor-type C (PTPRC) gene, also known as CD45, plays a role in immune cell function.
  • A specific allele (77G) of the PTPRC gene has been previously associated with multiple sclerosis (MS).

Purpose of the Study:

  • To investigate the allele frequencies of the PTPRC 77G polymorphism in patients with MS and primary immunodeficiencies.
  • To determine if aberrant PTPRC splicing due to the 77C-->G polymorphism contributes to disease susceptibility in autoimmune disorders.

Main Methods:

  • Genotyping analysis of the PTPRC 77C-->G polymorphism.
  • Comparison of allele frequencies between large cohorts of MS patients, primary immunodeficiency patients, and healthy controls.

Main Results:

  • No significant difference was observed in the frequency of the 77G allele between MS patients, primary immunodeficiency patients, and control groups.
  • The study did not find evidence to support a causative role for the PTPRC 77G polymorphism in the development of autoimmune diseases.

Conclusions:

  • The PTPRC 77G allele is not a significant risk factor for multiple sclerosis or related autoimmune conditions.
  • Aberrant splicing of PTPRC caused by the 77C-->G polymorphism does not appear to increase susceptibility to these diseases.

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