Geographical distribution and disease associations of the CD45 exon 6 138G variant.
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.
Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK.
Victoria
V
Ward
Branwen J
BJ
Hennig
Kouzo
K
Hirai
Hideki
H
Tahara
Akihiro
A
Tamori
Ritu
R
Dawes
Mineki
M
Saito
Charles
C
Bangham
Henry
H
Stephens
Anne E
AE
Goldfeld
Warunee
W
Kunachiwa
Nipapan
N
Leetrakool
Julian
J
Hopkin
Sarah
S
Dunstan
Adrian
A
Hill
Walter
W
Bodmer
Peter C L
PC
Beverley
Elma Z
EZ
Tchilian
D003141:Communicable Diseases / Q000453:epidemiology / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005202:Asia, Eastern / Q000453:epidemiology; D005787:Gene Frequency; D006526:Hepatitis C / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D007564:Japan / Q000453:epidemiology; D017493:Leukocyte Common Antigens / Q000235:genetics*; D017720:Molecular Epidemiology; D020641:Polymorphism, Single Nucleotide; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1
D017493:Leukocyte Common Antigens; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1