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. 2009 Jul;41(7):807-10.
doi: 10.1038/ng.394. Epub 2009 May 31.

A genome-wide association study of testicular germ cell tumor

Elizabeth A Rapley  1 , Clare Turnbull, Ali Amin Al Olama, Emmanouil T Dermitzakis, Rachel Linger, Robert A Huddart, Anthony Renwick, Deborah Hughes, Sarah Hines, Sheila Seal, Jonathan Morrison, Jeremie Nsengimana, Panagiotis Deloukas; UK Testicular Cancer Collaboration; Nazneen Rahman, D Timothy Bishop, Douglas F Easton, Michael R Stratton
Affiliations

A genome-wide association study of testicular germ cell tumor

Elizabeth A Rapley et al. Nat Genet. 2009 Jul.

Abstract

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 x 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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Figures

Figure 1
Figure 1
Lower BAK1 expression associated with the G allele of rs210138 in lymphoblastoid cell lines. The G allele is associated with the elevated risk of TGCT at this SNP.
See this image and copyright information in PMC

Comment in

  • High marks for GWAS.
    Chanock S. Chanock S. Nat Genet. 2009 Jul;41(7):765-6. doi: 10.1038/ng0709-765. Nat Genet. 2009. PMID: 19557077 Free PMC article.

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