caa a22 4500 467907021 CHVBK 20180406152837.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s00251-006-0099-0 doi (NATIONALLICENCE)springer-10.1007/s00251-006-0099-0 Geographical distribution and disease associations of the CD45 exon 6 138G variant [Elektronische Daten] [Victoria Ward, Branwen Hennig, Kouzo Hirai, Hideki Tahara, Akihiro Tamori, Ritu Dawes, Mineki Saito, Charles Bangham, Henry Stephens, Anne Goldfeld, Warunee Kunachiwa, Nipapan Leetrakool, Julian Hopkin, Sarah Dunstan, Adrian Hill, Walter Bodmer, Peter Beverley, Elma Tchilian] 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 CD45 nationallicence A138G nationallicence Alternative splicing nationallicence Type I diabetes nationallicence Hepatitis C nationallicence Ward Victoria Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Headington, Oxford, UK aut Hennig Branwen Wellcome Trust Centre for Human Genetics, Roosevelt Drive, OX3 7BN, Headington, Oxford, UK aut Hirai Kouzo Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut Tahara Hideki Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut Tamori Akihiro Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut Dawes Ritu The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut Saito Mineki Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, 890-8520, Kagoshima, Japan aut Bangham Charles Department of Immunology, Faculty of Medicine, Imperial College, W2 1PG, Norfolk Place, London, UK aut Stephens Henry Institute of Urology and Nephrology, University College London Medical School, Mortimer Street, W1N 8AA, London, UK aut Goldfeld Anne Center for Blood Research, Institute for Biomedical Research, 02115, Boston, MA, USA aut Kunachiwa Warunee Department of Clinical Immunology, Chiang Mai University, Chiang Mai, Thailand aut Leetrakool Nipapan Department of Clinical Immunology, Chiang Mai University, Chiang Mai, Thailand aut Hopkin Julian Swansea Clinical School, University of Wales, Swansea, UK aut Dunstan Sarah Hospital for Tropical Diseases, Ho Chi Minh City,, Vietnam aut Hill Adrian Wellcome Trust Centre for Human Genetics, Roosevelt Drive, OX3 7BN, Headington, Oxford, UK aut Bodmer Walter Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Headington, Oxford, UK aut Beverley Peter The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut Tchilian Elma The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut Immunogenetics Springer-Verlag 58/2-3(2006-04-01), 235-239 0093-7711 58:2-3<235 2006 58 251 https://doi.org/10.1007/s00251-006-0099-0 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00251-006-0099-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ward Victoria Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Hennig Branwen Wellcome Trust Centre for Human Genetics, Roosevelt Drive, OX3 7BN, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Hirai Kouzo Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut NATIONALLICENCE 700 1- Tahara Hideki Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut NATIONALLICENCE 700 1- Tamori Akihiro Osaka City University Graduate School of Medicine, 1-4-3, Asahi-machi, 545-8585, Abeno-ku, Osaka, Japan aut NATIONALLICENCE 700 1- Dawes Ritu The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut NATIONALLICENCE 700 1- Saito Mineki Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, 890-8520, Kagoshima, Japan aut NATIONALLICENCE 700 1- Bangham Charles Department of Immunology, Faculty of Medicine, Imperial College, W2 1PG, Norfolk Place, London, UK aut NATIONALLICENCE 700 1- Stephens Henry Institute of Urology and Nephrology, University College London Medical School, Mortimer Street, W1N 8AA, London, UK aut NATIONALLICENCE 700 1- Goldfeld Anne Center for Blood Research, Institute for Biomedical Research, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Kunachiwa Warunee Department of Clinical Immunology, Chiang Mai University, Chiang Mai, Thailand aut NATIONALLICENCE 700 1- Leetrakool Nipapan Department of Clinical Immunology, Chiang Mai University, Chiang Mai, Thailand aut NATIONALLICENCE 700 1- Hopkin Julian Swansea Clinical School, University of Wales, Swansea, UK aut NATIONALLICENCE 700 1- Dunstan Sarah Hospital for Tropical Diseases, Ho Chi Minh City,, Vietnam aut NATIONALLICENCE 700 1- Hill Adrian Wellcome Trust Centre for Human Genetics, Roosevelt Drive, OX3 7BN, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Bodmer Walter Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Beverley Peter The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut NATIONALLICENCE 700 1- Tchilian Elma The Edward Jenner Institute for Vaccine Research, RG20 7NN, Compton, Berks, UK aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 58/2-3(2006-04-01), 235-239 0093-7711 58:2-3<235 2006 58 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer