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.

View at publisher

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 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.

Impact and interest:

70 citations in Scopus
Search Google Scholar™
68 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

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

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page