Abstract
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.
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Acknowledgements
We are indebted for the provision of samples to J. Farrar, N. Day, D. Bethell, S. Loke (Oxford University Clinical Research Unit, Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam), R.M. Pitchappan (Madurai Kamaraj University, Madurai, India), T. Shirakawa (Kyoto University Medical School, Japan) and D. Sun (The Institute of Parasitic Disease, Shanghai, China).
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Ward, V., Hennig, B.J., Hirai, K. et al. Geographical distribution and disease associations of the CD45 exon 6 138G variant. Immunogenetics 58, 235–239 (2006). https://doi.org/10.1007/s00251-006-0099-0
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DOI: https://doi.org/10.1007/s00251-006-0099-0