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

Stuart MacGregor, Grant W. Montgomery, Jimmy Z. Liu, Zhen Zhen Zhao, Anjali K. Henders, Mitchell Stark, Helen Schmid, Elizabeth A. Holland, David L. Duffy, Mingfeng Zhang, Jodie N. Painter, Dale R. Nyholt, Judith A. Maskiell, Jodie Jetann, Megan Ferguson, Anne E. Cust, Mark A. Jenkins, David C. Whiteman, Håkan Olsson, Susana PuigGiovanna Bianchi-Scarrà, Johan Hansson, Florence Demenais, Maria Teresa Landi, Tadeusz Dȩbniak, Rona MacKie, Esther Azizi, Brigitte Bressac-De Paillerets, Alisa M. Goldstein, Peter A. Kanetsky, Nelleke A. Gruis, David E. Elder, Julia A. Newton-Bishop, D. Timothy Bishop, Mark M. Iles, Per Helsing, Christopher I. Amos, Qingyi Wei, Li E. Wang, Jeffrey E. Lee, Abrar A. Qureshi, Richard F. Kefford, Graham G. Giles, Bruce K. Armstrong, Joanne F. Aitken, Jiali Han, John L. Hopper, Jeffrey M. Trent, Kevin M. Brown, Nicholas G. Martin, Graham J. Mann, Nicholas K. Hayward

Research output: Contribution to journalArticle

98 Citations (Scopus)

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 = 9.0 × 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 × 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.

Original languageEnglish (US)
Pages (from-to)1114-1118
Number of pages5
JournalNature Genetics
Volume43
Issue number11
DOIs
StatePublished - Nov 1 2011
Externally publishedYes

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Genome-Wide Association Study
Melanoma
Case-Control Studies
Nevus
Pigmentation
Genes
Meta-Analysis

ASJC Scopus subject areas

  • Genetics

Cite this

MacGregor, S., Montgomery, G. W., Liu, J. Z., Zhao, Z. Z., Henders, A. K., Stark, M., ... Hayward, N. K. (2011). Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics, 43(11), 1114-1118. https://doi.org/10.1038/ng.958

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. / MacGregor, Stuart; Montgomery, Grant W.; Liu, Jimmy Z.; Zhao, Zhen Zhen; Henders, Anjali K.; Stark, Mitchell; Schmid, Helen; Holland, Elizabeth A.; Duffy, David L.; Zhang, Mingfeng; Painter, Jodie N.; Nyholt, Dale R.; Maskiell, Judith A.; Jetann, Jodie; Ferguson, Megan; Cust, Anne E.; Jenkins, Mark A.; Whiteman, David C.; Olsson, Håkan; Puig, Susana; Bianchi-Scarrà, Giovanna; Hansson, Johan; Demenais, Florence; Landi, Maria Teresa; Dȩbniak, Tadeusz; MacKie, Rona; Azizi, Esther; Bressac-De Paillerets, Brigitte; Goldstein, Alisa M.; Kanetsky, Peter A.; Gruis, Nelleke A.; Elder, David E.; Newton-Bishop, Julia A.; Bishop, D. Timothy; Iles, Mark M.; Helsing, Per; Amos, Christopher I.; Wei, Qingyi; Wang, Li E.; Lee, Jeffrey E.; Qureshi, Abrar A.; Kefford, Richard F.; Giles, Graham G.; Armstrong, Bruce K.; Aitken, Joanne F.; Han, Jiali; Hopper, John L.; Trent, Jeffrey M.; Brown, Kevin M.; Martin, Nicholas G.; Mann, Graham J.; Hayward, Nicholas K.

In: Nature Genetics, Vol. 43, No. 11, 01.11.2011, p. 1114-1118.

Research output: Contribution to journalArticle

MacGregor, S, Montgomery, GW, Liu, JZ, Zhao, ZZ, Henders, AK, Stark, M, Schmid, H, Holland, EA, Duffy, DL, Zhang, M, Painter, JN, Nyholt, DR, Maskiell, JA, Jetann, J, Ferguson, M, Cust, AE, Jenkins, MA, Whiteman, DC, Olsson, H, Puig, S, Bianchi-Scarrà, G, Hansson, J, Demenais, F, Landi, MT, Dȩbniak, T, MacKie, R, Azizi, E, Bressac-De Paillerets, B, Goldstein, AM, Kanetsky, PA, Gruis, NA, Elder, DE, Newton-Bishop, JA, Bishop, DT, Iles, MM, Helsing, P, Amos, CI, Wei, Q, Wang, LE, Lee, JE, Qureshi, AA, Kefford, RF, Giles, GG, Armstrong, BK, Aitken, JF, Han, J, Hopper, JL, Trent, JM, Brown, KM, Martin, NG, Mann, GJ & Hayward, NK 2011, 'Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3', Nature Genetics, vol. 43, no. 11, pp. 1114-1118. https://doi.org/10.1038/ng.958
MacGregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M et al. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics. 2011 Nov 1;43(11):1114-1118. https://doi.org/10.1038/ng.958
MacGregor, Stuart ; Montgomery, Grant W. ; Liu, Jimmy Z. ; Zhao, Zhen Zhen ; Henders, Anjali K. ; Stark, Mitchell ; Schmid, Helen ; Holland, Elizabeth A. ; Duffy, David L. ; Zhang, Mingfeng ; Painter, Jodie N. ; Nyholt, Dale R. ; Maskiell, Judith A. ; Jetann, Jodie ; Ferguson, Megan ; Cust, Anne E. ; Jenkins, Mark A. ; Whiteman, David C. ; Olsson, Håkan ; Puig, Susana ; Bianchi-Scarrà, Giovanna ; Hansson, Johan ; Demenais, Florence ; Landi, Maria Teresa ; Dȩbniak, Tadeusz ; MacKie, Rona ; Azizi, Esther ; Bressac-De Paillerets, Brigitte ; Goldstein, Alisa M. ; Kanetsky, Peter A. ; Gruis, Nelleke A. ; Elder, David E. ; Newton-Bishop, Julia A. ; Bishop, D. Timothy ; Iles, Mark M. ; Helsing, Per ; Amos, Christopher I. ; Wei, Qingyi ; Wang, Li E. ; Lee, Jeffrey E. ; Qureshi, Abrar A. ; Kefford, Richard F. ; Giles, Graham G. ; Armstrong, Bruce K. ; Aitken, Joanne F. ; Han, Jiali ; Hopper, John L. ; Trent, Jeffrey M. ; Brown, Kevin M. ; Martin, Nicholas G. ; Mann, Graham J. ; Hayward, Nicholas K. / Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. In: Nature Genetics. 2011 ; Vol. 43, No. 11. pp. 1114-1118.
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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 = 9.0 × 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 × 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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AU - MacGregor, Stuart

AU - Montgomery, Grant W.

AU - Liu, Jimmy Z.

AU - Zhao, Zhen Zhen

AU - Henders, Anjali K.

AU - Stark, Mitchell

AU - Schmid, Helen

AU - Holland, Elizabeth A.

AU - Duffy, David L.

AU - Zhang, Mingfeng

AU - Painter, Jodie N.

AU - Nyholt, Dale R.

AU - Maskiell, Judith A.

AU - Jetann, Jodie

AU - Ferguson, Megan

AU - Cust, Anne E.

AU - Jenkins, Mark A.

AU - Whiteman, David C.

AU - Olsson, Håkan

AU - Puig, Susana

AU - Bianchi-Scarrà, Giovanna

AU - Hansson, Johan

AU - Demenais, Florence

AU - Landi, Maria Teresa

AU - Dȩbniak, Tadeusz

AU - MacKie, Rona

AU - Azizi, Esther

AU - Bressac-De Paillerets, Brigitte

AU - Goldstein, Alisa M.

AU - Kanetsky, Peter A.

AU - Gruis, Nelleke A.

AU - Elder, David E.

AU - Newton-Bishop, Julia A.

AU - Bishop, D. Timothy

AU - Iles, Mark M.

AU - Helsing, Per

AU - Amos, Christopher I.

AU - Wei, Qingyi

AU - Wang, Li E.

AU - Lee, Jeffrey E.

AU - Qureshi, Abrar A.

AU - Kefford, Richard F.

AU - Giles, Graham G.

AU - Armstrong, Bruce K.

AU - Aitken, Joanne F.

AU - Han, Jiali

AU - Hopper, John L.

AU - Trent, Jeffrey M.

AU - Brown, Kevin M.

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AU - Mann, Graham J.

AU - Hayward, Nicholas K.

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N2 - 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 = 9.0 × 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 × 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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