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

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 au...

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Main Authors: Victoria Ward, Branwen J. Hennig, Kouzo Hirai, Hideki Tahara, Akihiro Tamori, Ritu Dawes, Mineki Saito, Charles Bangham, Henry Stephens, Anne E. Goldfeld, Warunee Kunachiwa, Nipapan Leetrakool, Julian Hopkin, Sarah Dunstan, Adrian Hill, Walter Bodmer, Peter C.L. Beverley, Elma Z. Tchilian
Format: Journal
Published: 2018
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Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33645460228&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/61534
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Institution: Chiang Mai University
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Summary: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. © Springer-Verlag 2006.