PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging.
1Wellcome Trust Centre for Human Genetics, University of Oxford, and John Radcliffe Hospital, Oxford, UK.
Tissue Antigens
|March 4, 2008
Summary
CD45 gene (PTPRC) polymorphisms influence immune cell signaling and disease susceptibility. The A138G variant is linked to Graves' disease, indicating its functional importance in autoimmune conditions.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- CD45 (PTPRC) is a key tyrosine phosphatase in lymphocyte signaling.
- Specific CD45 gene polymorphisms (C77G, A138G) affect isoform expression and are linked to autoimmune and infectious diseases.
Purpose of the Study:
- To investigate linkage disequilibrium and haplotype patterns of the CD45 gene (PTPRC) across diverse populations.
- To assess the association of CD45 single nucleotide polymorphisms (SNPs) and common haplotypes with type 1 diabetes, Graves' disease, hepatitis C, and tuberculin response.
Main Methods:
- Utilized HapMap data to analyze linkage disequilibrium across the CD45 gene (PTPRC).
- Employed a set of single nucleotide polymorphisms (SNPs) to identify common haplotypes.
- Conducted association studies for type 1 diabetes, Graves' disease (Japanese), hepatitis C (UK), and tuberculin response (Chinese).
Main Results:
- Identified substantial linkage disequilibrium across the CD45 gene (PTPRC) with conserved patterns in different populations.
- Found a limited number of common haplotypes for the CD45 gene.
- The A138G allele, primarily on one haplotype, showed a significant association with Graves' disease.
Conclusions:
- CD45 (PTPRC) exhibits significant linkage disequilibrium, with specific haplotypes carrying functional importance.
- The A138G polymorphism is functionally significant and associated with Graves' disease susceptibility.
- This study provides insights into the genetic basis of immune-related diseases linked to CD45.
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