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

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MARC

MacGregor, Stuart (author)

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

Article/chapterEnglish2011

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2011-10-09
Springer Science and Business Media LLC,2011

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LIBRIS-ID:oai:lup.lub.lu.se:fe24832a-21d8-4a12-9d3c-24fb4f672090
https://lup.lub.lu.se/record/2254280URI
https://doi.org/10.1038/ng.958DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:123530970URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

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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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Montgomery, Grant W. (author)
Liu, Jimmy Z. (author)
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, JodieKarolinska Institutet (author)
Ferguson, Megan (author)
Cust, Anne E. (author)
Jenkins, Mark A. (author)
Whiteman, David C. (author)
Olsson, HåkanLund 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(Swepub:lu)onk-hol (author)
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)
Karolinska InstitutetBröstcancer-genetik (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC43:11, s. 1114-11181546-17181061-4036

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By the author/editor: MacGregor, Stuar ...; Montgomery, Gran ...; Liu, Jimmy Z.; Zhao, Zhen Zhen; Henders, Anjali ...; Stark, Mitchell; show more...; Schmid, Helen; Holland, Elizabe ...; Duffy, David L.; Zhang, Mingfeng; Painter, Jodie N ...; Nyholt, Dale R.; Maskiell, Judith ...; Jetann, Jodie; Ferguson, Megan; Cust, Anne E.; Jenkins, Mark A.; Whiteman, David ...; Olsson, Håkan; Puig, Susana; Bianchi-Scarra, ...; Hansson, Johan; Demenais, Floren ...; Landi, Maria Ter ...; Debniak, Tadeusz; Mackie, Rona; Azizi, Esther; Bressac-de Paill ...; Goldstein, Alisa ...; Kanetsky, Peter ...; Gruis, Nelleke A ...; Elder, David E.; Newton-Bishop, J ...; Bishop, D. Timot ...; Iles, Mark M.; Helsing, Per; Amos, Christophe ...; Wei, Qingyi; Wang, Li-E; Lee, Jeffrey E.; Qureshi, Abrar A ...; Kefford, Richard ...; Giles, Graham G.; Armstrong, Bruce ...; Aitken, Joanne F ...; Han, Jiali; Hopper, John L.; Trent, Jeffrey M ...; Brown, Kevin M.; Martin, Nicholas ...; Mann, Graham J.; Hayward, Nichola ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

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