Journal article

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

V Ward, BJ Hennig, K Hirai, H Tahara, A Tamori, R Dawes, M Saito, C Bangham, H Stephens, AE Goldfeld, W Kunachiwa, N Leetrakool, J Hopkin, S Dunstan, A Hill, W Bodmer, PC Beverley, EZ Tchilian

Immunogenetics | SPRINGER | Published : 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, indic..

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University of Melbourne Researchers