Letter abstract


Nature Genetics 41, 807 - 810 (2009)
Published online: 31 May 2009 | doi:10.1038/ng.394

A genome-wide association study of testicular germ cell tumor

Elizabeth A Rapley1, Clare Turnbull1, Ali Amin Al Olama2, Emmanouil T Dermitzakis3, Rachel Linger1, Robert A Huddart4, Anthony Renwick1, Deborah Hughes1, Sarah Hines1, Sheila Seal1, Jonathan Morrison2, Jeremie Nsengimana5, Panagiotis Deloukas3, The UK Testicular Cancer Collaboration6, Nazneen Rahman1, D Timothy Bishop5, Douglas F Easton2 & Michael R Stratton1,3

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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.

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  1. Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
  2. Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.
  3. The Wellcome Trust Sanger Institute, Hinxton, UK.
  4. Academic Radiotherapy Unit, Institute of Cancer Research, Sutton, Surrey, UK.
  5. Section of Epidemiology & Biostatistics, Leeds Institute of Molecular Medicine, Leeds, UK.
  6. A full list of members is listed in the Supplementary Note online.

Correspondence to: Michael R Stratton1,3 e-mail: mrs@sanger.ac.uk



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