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Title: Geographical distribution and disease associations of the CD45 exon 6 138G variant
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
Keywords: Biochemistry, Genetics and Molecular Biology
Immunology and Microbiology
Issue Date: 1-Apr-2006
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. © Springer-Verlag 2006.
ISSN: 00937711
Appears in Collections:CMUL: Journal Articles

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