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A genome-wide association study of testicular germ cell tumor

Rapley, E.A., Turnbull, C., Al Olama, A.A., Dermitzakis, E.T., Linger, R., Huddart, R.A., Renwick, A., Hughes, D., Hines, S., Seal, S., Morrison, J., Nsengimana, J., Deloukas, P., Rahman, N., Bishop, D.T., Easton, D.F., Stratton, M.R. and Perera, D. (2009) A genome-wide association study of testicular germ cell tumor. Nature Genetics, 41 (7). pp. 807-810.

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We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19–1.58), P = 3 times 10-13), chromosome 6 (OR = 1.50 (95% CI = 1.28–1.75), P = 10-13) and chromosome 12 (OR = 2.55 (95% CI = 2.05–3.19), P = 10-31). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.

Item Type: Journal Article
Publisher: Nature Publishing Group
Copyright: © 2009 Macmillan Publishers Limited, part of Springer Nature
Other Information: Devindri Perera appears courtesy of The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)
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