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

MacGregor, Stuart (author)
Montgomery, Grant W. (author)
Liu, Jimmy Z. (author)
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Zhao, Zhen Zhen (author)
Henders, Anjali K. (author)
Stark, Mitchell (author)
Schmid, Helen (author)
Holland, Elizabeth A. (author)
Duffy, David L. (author)
Zhang, Mingfeng (author)
Painter, Jodie N. (author)
Nyholt, Dale R. (author)
Maskiell, Judith A. (author)
Jetann, Jodie (author)
Karolinska Institutet
Ferguson, Megan (author)
Cust, Anne E. (author)
Jenkins, Mark A. (author)
Whiteman, David C. (author)
Olsson, Håkan (author)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
Puig, Susana (author)
Bianchi-Scarra, Giovanna (author)
Hansson, Johan (author)
Demenais, Florence (author)
Landi, Maria Teresa (author)
Debniak, Tadeusz (author)
Mackie, Rona (author)
Azizi, Esther (author)
Bressac-de Paillerets, Brigitte (author)
Goldstein, Alisa M. (author)
Kanetsky, Peter A. (author)
Gruis, Nelleke A. (author)
Elder, David E. (author)
Newton-Bishop, Julia A. (author)
Bishop, D. Timothy (author)
Iles, Mark M. (author)
Helsing, Per (author)
Amos, Christopher I. (author)
Wei, Qingyi (author)
Wang, Li-E (author)
Lee, Jeffrey E. (author)
Qureshi, Abrar A. (author)
Kefford, Richard F. (author)
Giles, Graham G. (author)
Armstrong, Bruce K. (author)
Aitken, Joanne F. (author)
Han, Jiali (author)
Hopper, John L. (author)
Trent, Jeffrey M. (author)
Brown, Kevin M. (author)
Martin, Nicholas G. (author)
Mann, Graham J. (author)
Hayward, Nicholas K. (author)
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 (creator_code:org_t)
2011-10-09
2011
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1114-1118
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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