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CD45 is crucial for normal lymphocyte signalling, and altered CD45 expression has major effects on immune function. Both mice and humans lacking CD45 expression are severely immunodeficient, and single-nucleotide polymorphisms in the CD45 gene that cause altered splicing have been associated with autoimmune and infectious diseases. Recently, we identified an exon 6 A138G polymorphism resulting in an increased proportion of activated CD45RO T cells and altered immune function. Here we report a significantly reduced frequency of the 138G allele in hepatitis C Japanese patients and a possibly reduced frequency in type I diabetes. The allele is widely distributed in the Far East and India, indicating that it may have a significant effect on disease burden in a large part of the human population.

Original publication

DOI

10.1007/s00251-006-0099-0

Type

Journal article

Journal

Immunogenetics

Publication Date

04/2006

Volume

58

Pages

235 - 239

Keywords

Communicable Diseases, Diabetes Mellitus, Type 1, Exons, Far East, Gene Frequency, Hepatitis C, Humans, India, Japan, Leukocyte Common Antigens, Molecular Epidemiology, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 1