Journal article
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
S MacGregor, GW Montgomery, JZ Liu, ZZ Zhao, AK Henders, M Stark, H Schmid, EA Holland, DL Duffy, M Zhang, JN Painter, DR Nyholt, JA Maskiell, J Jetann, M Ferguson, AE Cust, MA Jenkins, DC Whiteman, H Olsson, S Puig Show all
Nature Genetics | Published : 2011
DOI: 10.1038/ng.958
Abstract
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAPĝ€" CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9..
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Awarded by University of Sydney
Funding Acknowledgements
This work was supported by the Melanoma Research Alliance, the National Cancer Institute (NCI) of the US National Institutes of Health (NIH) (CA88363, CA83115, CA122838, CA87969, CA055075, CA100264, CA133996 and CA49449), the National Health and Medical Research Council (NHMRC) of Australia (107359, 200071, 241944, 339462, 380385, 389927, 389875, 389891, 389892, 389938, 402761, 443036, 442915, 442981, 496610, 496675, 496739, 552485 and 552498), the Cancer Councils New South Wales, Victoria and Queensland, the Cancer Institute New South Wales, the Cooperative Research Centre (CRC) for Discovery of Genes for Common Human Diseases, Cerylid Biosciences (Melbourne), the Australian Cancer Research Foundation, The Wellcome Trust and donations from Neville and Shirley Hawkins. Endometriosis sample genotyping was funded by a grant from the Wellcome Trust (WT084766/Z/08/Z). The Australian Twin Registry is supported by an Australian National Health and Medical Research Council (NHMRC) Enabling Grant (2004-2009). D.L.D., 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. is the recipient of a Career Development Award from the NHMRC (496674, 613705). D.C.W. is a Future Fellow of the Australian Research Council. K.M.B. is supported by the NCI of the NIH. J.M.T. is supported by the NCI of the NIH (CA109544). B.K.A. is supported by the University of Sydney Medical Foundation. A.E.C. is the recipient of a NHMRC public health postdoctoral fellowship (520018) and a Cancer Institute NSW Early Career Development Fellowship (10/ECF/2-06). A.M.G. and M.T.L. were supported by the Intramural Research Program of the NIH, NCI and DCEG. The GenoMEL replication sample was funded by the European Commission under the 6<SUP>th</SUP> Framework Programme (contract no. LSHC-CT-2006-018702), by Cancer Research UK Programme Award (C588/A4994) and by the NIH (CA83115). Research at M.D. Anderson Cancer Center (MDACC) was partially supported by NIH grants (CA100264, 2P50CA093459, P30CA016672 and R01CA133996). The Center for Inherited Disease Research performed genotyping for MDACC and is supported by contract (HHSN268200782096C). GENEVA performed data cleaning and is supported by an NIH grant (HG004446). Research by the Barcelona team was supported by Fondo de Investigaciones Sanitarias (09/1393).