Abstract
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 × 10−15). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.
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Acknowledgements
This work was supported by the National Cancer Institute (NCI) of the US National Institutes of Health (NIH) (CA88363, CA83115), the National Health and Medical Research Council of Australia (NHMRC) (380385, 389892, 496675, 402761), the Cancer Councils New South Wales, Victoria and Queensland, the Cancer Institute New South Wales, the Melanoma Research Foundation (MRF) and a charitable contribution from F. Najafi. N.K.H. and G.W.M. are supported by the NHMRC Fellowships scheme and J.L.H. is an Australia Fellow of the NHMRC. S.M. and K.M.B. are recipients of Career Development Awards from the NHMRC (496674) and MRF, respectively. K.M.B. and J.M.T. are supported by the NCI/NIH (respectively, CA109544 and CA083115; and CA109544). D.A.S. is supported by the US National Heart, Lung, and Blood Institute of the NIH (HL086528). B.K.A. is supported by the University of Sydney Medical Foundation. A.E.C. is supported by an NHMRC postdoctoral fellowship. The authors are grateful to M. Huentelman and S. Szelinger for technical assistance. The AMFS and Q-MEGA gratefully acknowledge all of their participants, the hard work of all its research interviewers and examiners, and C. Agha-Hamilton for managing the AMFS biospecimens. Q-MEGA thanks A. Baxter, M. de Nooyer, I. Gardner, D. Statham, B. Haddon, J. Palmer, B. Castellano, L. Bardsley, D. Smyth and H. Beeby for their input into project management, sample processing and database development.
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Brown, K., MacGregor, S., Montgomery, G. et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 40, 838–840 (2008). https://doi.org/10.1038/ng.163
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DOI: https://doi.org/10.1038/ng.163
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