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

Immunogenetics
V WardElma Z Tchilian

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.

References

Jul 1, 1995·European Journal of Immunology·H ThudeR Schwinzer
Jul 11, 1996·The New England Journal of Medicine·T H TranN J White
Mar 4, 1998·European Journal of Immunology·C F ZilchP C Beverley
Dec 8, 1998·The Journal of Infectious Diseases·S RoyA V Hill
Dec 20, 2000·The Journal of Immunology : Official Journal of the American Association of Immunologists·K J JefferyC R Bangham
Jan 6, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·E Z TchilianP C Beverley
Feb 24, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·J F SubraJ Damoiseaux
Feb 28, 2001·Proceedings of the National Academy of Sciences of the United States of America·S BartlettW F Bodmer
Feb 14, 2002·Tropical Medicine & International Health : TM & IH·Xuan Thanh Phuong CaoUNKNOWN Dong Nai Paediatric Hospital Study Group
Nov 5, 2002·Annual Review of Immunology·Michelle L HermistonArthur Weiss
Apr 8, 2003·Current Topics in Medicinal Chemistry·Junko Irie-SasakiJosef M Penninger
Apr 30, 2003·Proceedings of the National Academy of Sciences of the United States of America·Tara StantonElma Z Tchilian
Aug 31, 2004·Human Molecular Genetics·Sally BoxallElma Z Tchilian
Dec 9, 2004·Multiple Sclerosis : Clinical and Laboratory Research·Tamara VyshkinaBernadette Kalman
Jun 3, 2005·Nature·John D Rioux, Abul K Abbas

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Citations

Nov 15, 2006·Clinical and Experimental Immunology·E Z TchilianP C L Beverley
Mar 12, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Matthias Hardtke-WolenskiElmar Jaeckel
Jan 24, 2007·Liver International : Official Journal of the International Association for the Study of the Liver·Akihiro TamoriShuhei Nishiguchi
Jul 20, 2010·RNA Biology·Irina EvsyukovaMariano A Garcia-Blanco

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