Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Macgregor, S., Montgomery, G.W., Liu, J.Z., Zhao, Z.Z., Henders, A.K., Stark, M., Schmid, H., Holland, E.A., Duffy, D.L., Zhang, M., Painter, J.N., Nyholt, D.R., Maskiell, J.A., Jetann, J., Ferguson, M., Cust, A. E., Jenkins, M.A., Whiteman, D.C., Olsson, H., Puig, S., Bianchi-Scarra, G., Hansson, J., Demenais, F., Landi, M.T., Debniak, T., Mackie, R., Azizi, E., Bressac-de Paillerets, B., Goldstein, A.M., Kanetsky, P.A., Gruis, N.A., Elder, D.E., Newton-Bishop, J.A., Bishop, D.T., Iles, M.M., Helsing, P., Amos, C.I., Wei, Q., Wang, L.E., Lee, J.E., Qureshi, A.A., Kefford, R.F., Giles, G.G., Armstrong, B.K., Aitken, J.F., Han, J., Hopper, J.L., Trent, J.M., Brown, K.M., Martin, N.G., Mann, G.J., & Hayward, N.K. (2011) Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics, 43(11), pp. 1114-1118.

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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 MTAP-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 = 9.0 x 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 x 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density.

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ID Code: 91917
Item Type: Journal Article
Refereed: Yes
Keywords: *Chromosomes, Human, Pair 1, *Genome-Wide Association Study, Humans, Melanoma/*genetics, Polymorphism, Single Nucleotide
DOI: 10.1038/ng.958
ISSN: 1546-1718
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 14 Jan 2016 23:01
Last Modified: 20 Jan 2016 05:11

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