Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Matthew Law; D Bishop; Jeffrey Lee; Myriam Brossard; Nicholas Martin; Erik Moses; Fengju Song; Jennifer Barrett; Rajiv Kumar; Douglas Easton; P Pharoah; Anthony Swerdlow; Katerina Kypreou; John Taylor; Mark Harland; Juliette Randerson-Moor; Lars Akslen; Per Andresen; Marie-Francoise Avril; Esther Azizi; Giovanna Scarra; Kevin Brown; Tadeusz Debniak; David Duffy; David Elder; Shenying Fang; Eitan Friedman; Pilar Galan; Paolo Ghiorzo; Elizabeth Gillanders; Alisa Goldstein; Nelleke Gruis; Johan Hansson; Per Helsing; Marko Hocevar; Veronica Hoiom; Christian Ingvar; Peter Kanetsky; Wei Chen; Maria Landi; Julie Lang; Mark Lathrop; J Lubinski; Rona Mackie; Graham Mann; Anders Molven; Grant Montgomery; Srdjan Novakovic; Hakan Olsson; Susana Puig; Joan Puig-Butille; Abrar Qureshi; Graham Radford-Smith; Nienke Van Der Stoep; Remco Van Doorn; David Whiteman; Jamie Craig; Dirk Schadendorf; L Simms; Kathryn Burdon; Dale Nyholt; Karen Pooley; Nick Orr; Alexander Stratigos; Anne Cust; Sarah Ward; Nicholas Hayward; Jiali Han; Hans-Joachim Schulze; Alison Dunning; Julia Newton Bishop; Florence Demenais; Christopher Amos; Stuart Macgregor; Mark Iles

doi:10.1038/ng.3373

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Matthew Law, D Bishop, Jeffrey Lee, Myriam Brossard, Nicholas Martin, Erik Moses, Fengju Song, Jennifer Barrett, Rajiv Kumar, Douglas Easton, P Pharoah, Anthony Swerdlow, Katerina Kypreou, John Taylor, Mark Harland, Juliette Randerson-Moor, Lars Akslen, Per Andresen, Marie-Francoise Avril, Esther AziziGiovanna Scarra, Kevin Brown, Tadeusz Debniak, David Duffy, David Elder, Shenying Fang, Eitan Friedman, Pilar Galan, Paolo Ghiorzo, Elizabeth Gillanders, Alisa Goldstein, Nelleke Gruis, Johan Hansson, Per Helsing, Marko Hocevar, Veronica Hoiom, Christian Ingvar, Peter Kanetsky, Wei Chen, Maria Landi, Julie Lang, Mark Lathrop, J Lubinski, Rona Mackie, Graham Mann, Anders Molven, Grant Montgomery, Srdjan Novakovic, Hakan Olsson, Susana Puig, Joan Puig-Butille, Abrar Qureshi, Graham Radford-Smith, Nienke Van Der Stoep, Remco Van Doorn, David Whiteman, Jamie Craig, Dirk Schadendorf, L Simms, Kathryn Burdon, Dale Nyholt, Karen Pooley, Nick Orr, Alexander Stratigos, Anne Cust, Sarah Ward, Nicholas Hayward, Jiali Han, Hans-Joachim Schulze, Alison Dunning, Julia Newton Bishop, Florence Demenais, Christopher Amos, Stuart Macgregor, Mark Iles

College of Medicine and Public Health

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199 Citations (Scopus)

Abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10^-8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

Original language	English
Pages (from-to)	987-995
Number of pages	9
Journal	Nature Genetics
Volume	47
Issue number	9
DOIs	https://doi.org/10.1038/ng.3373
Publication status	Published - 27 Aug 2015

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Law, M., Bishop, D., Lee, J., Brossard, M., Martin, N., Moses, E., Song, F., Barrett, J., Kumar, R., Easton, D., Pharoah, P., Swerdlow, A., Kypreou, K., Taylor, J., Harland, M., Randerson-Moor, J., Akslen, L., Andresen, P., Avril, M.-F., ... Iles, M. (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47(9), 987-995. https://doi.org/10.1038/ng.3373

@article{47b77436d3d2441c971986ede6e396a2,

title = "Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma",

abstract = "Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10-8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.",

author = "Matthew Law and D Bishop and Jeffrey Lee and Myriam Brossard and Nicholas Martin and Erik Moses and Fengju Song and Jennifer Barrett and Rajiv Kumar and Douglas Easton and P Pharoah and Anthony Swerdlow and Katerina Kypreou and John Taylor and Mark Harland and Juliette Randerson-Moor and Lars Akslen and Per Andresen and Marie-Francoise Avril and Esther Azizi and Giovanna Scarra and Kevin Brown and Tadeusz Debniak and David Duffy and David Elder and Shenying Fang and Eitan Friedman and Pilar Galan and Paolo Ghiorzo and Elizabeth Gillanders and Alisa Goldstein and Nelleke Gruis and Johan Hansson and Per Helsing and Marko Hocevar and Veronica Hoiom and Christian Ingvar and Peter Kanetsky and Wei Chen and Maria Landi and Julie Lang and Mark Lathrop and J Lubinski and Rona Mackie and Graham Mann and Anders Molven and Grant Montgomery and Srdjan Novakovic and Hakan Olsson and Susana Puig and Joan Puig-Butille and Abrar Qureshi and Graham Radford-Smith and {Van Der Stoep}, Nienke and {Van Doorn}, Remco and David Whiteman and Jamie Craig and Dirk Schadendorf and L Simms and Kathryn Burdon and Dale Nyholt and Karen Pooley and Nick Orr and Alexander Stratigos and Anne Cust and Sarah Ward and Nicholas Hayward and Jiali Han and Hans-Joachim Schulze and Alison Dunning and {Newton Bishop}, Julia and Florence Demenais and Christopher Amos and Stuart Macgregor and Mark Iles",

year = "2015",

month = aug,

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doi = "10.1038/ng.3373",

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Law, M, Bishop, D, Lee, J, Brossard, M, Martin, N, Moses, E, Song, F, Barrett, J, Kumar, R, Easton, D, Pharoah, P, Swerdlow, A, Kypreou, K, Taylor, J, Harland, M, Randerson-Moor, J, Akslen, L, Andresen, P, Avril, M-F, Azizi, E, Scarra, G, Brown, K, Debniak, T, Duffy, D, Elder, D, Fang, S, Friedman, E, Galan, P, Ghiorzo, P, Gillanders, E, Goldstein, A, Gruis, N, Hansson, J, Helsing, P, Hocevar, M, Hoiom, V, Ingvar, C, Kanetsky, P, Chen, W, Landi, M, Lang, J, Lathrop, M, Lubinski, J, Mackie, R, Mann, G, Molven, A, Montgomery, G, Novakovic, S, Olsson, H, Puig, S, Puig-Butille, J, Qureshi, A, Radford-Smith, G, Van Der Stoep, N, Van Doorn, R, Whiteman, D, Craig, J, Schadendorf, D, Simms, L, Burdon, K, Nyholt, D, Pooley, K, Orr, N, Stratigos, A, Cust, A, Ward, S, Hayward, N, Han, J, Schulze, H-J, Dunning, A, Newton Bishop, J, Demenais, F, Amos, C, Macgregor, S & Iles, M 2015, 'Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma', Nature Genetics, vol. 47, no. 9, pp. 987-995. https://doi.org/10.1038/ng.3373

TY - JOUR

T1 - Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

AU - Law, Matthew

AU - Bishop, D

AU - Lee, Jeffrey

AU - Brossard, Myriam

AU - Martin, Nicholas

AU - Moses, Erik

AU - Song, Fengju

AU - Barrett, Jennifer

AU - Kumar, Rajiv

AU - Easton, Douglas

AU - Pharoah, P

AU - Swerdlow, Anthony

AU - Kypreou, Katerina

AU - Taylor, John

AU - Harland, Mark

AU - Randerson-Moor, Juliette

AU - Akslen, Lars

AU - Andresen, Per

AU - Avril, Marie-Francoise

AU - Azizi, Esther

AU - Scarra, Giovanna

AU - Brown, Kevin

AU - Debniak, Tadeusz

AU - Duffy, David

AU - Elder, David

AU - Fang, Shenying

AU - Friedman, Eitan

AU - Galan, Pilar

AU - Ghiorzo, Paolo

AU - Gillanders, Elizabeth

AU - Goldstein, Alisa

AU - Gruis, Nelleke

AU - Hansson, Johan

AU - Helsing, Per

AU - Hocevar, Marko

AU - Hoiom, Veronica

AU - Ingvar, Christian

AU - Kanetsky, Peter

AU - Chen, Wei

AU - Landi, Maria

AU - Lang, Julie

AU - Lathrop, Mark

AU - Lubinski, J

AU - Mackie, Rona

AU - Mann, Graham

AU - Molven, Anders

AU - Montgomery, Grant

AU - Novakovic, Srdjan

AU - Olsson, Hakan

AU - Puig, Susana

AU - Puig-Butille, Joan

AU - Qureshi, Abrar

AU - Radford-Smith, Graham

AU - Van Der Stoep, Nienke

AU - Van Doorn, Remco

AU - Whiteman, David

AU - Craig, Jamie

AU - Schadendorf, Dirk

AU - Simms, L

AU - Burdon, Kathryn

AU - Nyholt, Dale

AU - Pooley, Karen

AU - Orr, Nick

AU - Stratigos, Alexander

AU - Cust, Anne

AU - Ward, Sarah

AU - Hayward, Nicholas

AU - Han, Jiali

AU - Schulze, Hans-Joachim

AU - Dunning, Alison

AU - Newton Bishop, Julia

AU - Demenais, Florence

AU - Amos, Christopher

AU - Macgregor, Stuart

AU - Iles, Mark

PY - 2015/8/27

Y1 - 2015/8/27

N2 - Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10-8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

AB - Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10-8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

UR - http://www.scopus.com/inward/record.url?scp=84940734774&partnerID=8YFLogxK

U2 - 10.1038/ng.3373

DO - 10.1038/ng.3373

M3 - Article

SN - 1061-4036

VL - 47

SP - 987

EP - 995

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Abstract

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