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|Title:||Geographical distribution and disease associations of the CD45 exon 6 138G variant|
Branwen J. Hennig
Anne E. Goldfeld
Peter C.L. Beverley
Elma Z. Tchilian
|Keywords:||Biochemistry, Genetics and Molecular Biology|
Immunology and Microbiology
|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.|
|Appears in Collections:||CMUL: Journal Articles|
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