Geographical distribution and disease associations of the CD45 exon 6 138G variant.

Ward, Victoria; Hennig, Branwen J; Hirai, Kouzo; Tahara, Hideki; Tamori, Akihiro; Dawes, Ritu; Saito, Mineki; Bangham, Charles; Stephens, Henry; Goldfeld, Anne E; +8 more...Kunachiwa, Warunee; Leetrakool, Nipapan; Hopkin, Julian; Dunstan, Sarah; Hill, Adrian; Bodmer, Walter; Beverley, Peter CL; and Tchilian, Elma Z (2006) Geographical distribution and disease associations of the CD45 exon 6 138G variant. Immunogenetics, 58 (2-3). pp. 235-239. ISSN 0093-7711 DOI: 10.1007/s00251-006-0099-0
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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.

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