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


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..

View full abstract

University of Melbourne Researchers