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

AMFS Investigators; ATHENS Melanoma Study Group; GenoMEL Consortium; Essen-Heidelberg Investigators; The SDH Study Group; Q-MEGA and QTWIN Investigators

doi:10.1038/ng.3373

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

AMFS Investigators
, ATHENS Melanoma Study Group
, GenoMEL Consortium
, Essen-Heidelberg Investigators
, The SDH Study Group
, Q-MEGA and QTWIN Investigators

Clinical Departments

Queensland Institute of Medical Research
University of Leeds
University of Texas MD Anderson Cancer Center
Institut national de la santé et de la recherche médicale
Université Paris Cité
University of Western Australia
Tianjin Medical University
German Cancer Research Center
University of Cambridge
Institute of Cancer Research
National and Kapodistrian University of Athens
University of Bergen
University of Oslo
Sheba Medical Center at Tel Hashomer
University of Genoa
University and San Martino Hospital of Genoa
National Institutes of Health
Pomeranian Medical University in Szczecin
University of Pennsylvania
University of Paris 13
Leiden University
Karolinska Institutet
Institute of Oncology Ljubljana
Lund University
Moffitt Cancer Center
University of Glasgow
McGill University
The University of Sydney
University of Barcelona
Centro de Investigación Biomédica en Red
Brown University
Royal Brisbane and Women's Hospital
University of Queensland
Flinders University
University of Duisburg-Essen
German Consortium for Translational Cancer Research (DKTK)
University of Tasmania
Queensland University of Technology
Indiana University-Purdue University Indianapolis
Indiana University Bloomington
University of Münster
Dartmouth College

Research output: Contribution to journal › Article › peer-review

211 Scopus citations

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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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
State	Published - 27 Aug 2015

Funding

Funders	Funder number
National Institutes of Health	UL1TR001108
National Cancer Institute	P30CA023108, R01CA133996, R01CA083115, R01CA122838, R03CA167741, R01CA088363, R01CA100264, P50CA093459
National Center for Advancing Translational Sciences	UL1TR001108, UL1TR002529
Medical Research Council	MR/L01629X/1
European Commission	294576

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1038/ng.3373

Cite this

@article{df688da4695e411796a78070b5a9c4d8,

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 = "\{AMFS Investigators\} and \{ATHENS Melanoma Study Group\} and \{GenoMEL Consortium\} and \{Essen-Heidelberg Investigators\} and \{The SDH Study Group\} and \{Q-MEGA and QTWIN Investigators\} and Law, \{Matthew H.\} and Bishop, \{D. Timothy\} and Lee, \{Jeffrey E.\} and Myriam Brossard and Martin, \{Nicholas G.\} and Moses, \{Eric K.\} and Fengju Song and Barrett, \{Jennifer H.\} and Rajiv Kumar and Easton, \{Douglas F.\} and Pharoah, \{Paul D.P.\} and Swerdlow, \{Anthony J.\} and Kypreou, \{Katerina P.\} and Taylor, \{John C.\} and Mark Harland and Juliette Randerson-Moor and Akslen, \{Lars A.\} and Andresen, \{Per A.\} and Avril, \{Marie Fran{\c c}oise\} and Esther Azizi and Scarr{\`a}, \{Giovanna Bianchi\} and Brown, \{Kevin M.\} and Tadeusz D{\c e}bniak and Duffy, \{David L.\} and Elder, \{David E.\} and Shenying Fang and Eitan Friedman and Pilar Galan and Paola Ghiorzo and Gillanders, \{Elizabeth M.\} and Goldstein, \{Alisa M.\} and Gruis, \{Nelleke A.\} and Johan Hansson and Per Helsing and Marko Ho{\v c}evar and Veronica H{\"o}iom and Christian Ingvar and Kanetsky, \{Peter A.\} and Chen, \{Wei V.\} and Landi, \{Maria Teresa\} and Julie Lang and Lathrop, \{G. Mark\} and Jan Lubi{\'n}ski and MacKie, \{Rona M.\} and Mann, \{Graham J.\} and Anders Molven and Montgomery, \{Grant W.\} and Srdjan Novakovi{\'c} and H{\aa}kan Olsson and Susana Puig",

year = "2015",

month = aug,

day = "27",

doi = "10.1038/ng.3373",

language = "אנגלית",

volume = "47",

pages = "987--995",

journal = "Nature Genetics",

issn = "1061-4036",

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

AU - AMFS Investigators

AU - ATHENS Melanoma Study Group

AU - GenoMEL Consortium

AU - Essen-Heidelberg Investigators

AU - The SDH Study Group

AU - Q-MEGA and QTWIN Investigators

AU - Law, Matthew H.

AU - Bishop, D. Timothy

AU - Lee, Jeffrey E.

AU - Brossard, Myriam

AU - Martin, Nicholas G.

AU - Moses, Eric K.

AU - Song, Fengju

AU - Barrett, Jennifer H.

AU - Kumar, Rajiv

AU - Easton, Douglas F.

AU - Pharoah, Paul D.P.

AU - Swerdlow, Anthony J.

AU - Kypreou, Katerina P.

AU - Taylor, John C.

AU - Harland, Mark

AU - Randerson-Moor, Juliette

AU - Akslen, Lars A.

AU - Andresen, Per A.

AU - Avril, Marie Françoise

AU - Azizi, Esther

AU - Scarrà, Giovanna Bianchi

AU - Brown, Kevin M.

AU - Dębniak, Tadeusz

AU - Duffy, David L.

AU - Elder, David E.

AU - Fang, Shenying

AU - Friedman, Eitan

AU - Galan, Pilar

AU - Ghiorzo, Paola

AU - Gillanders, Elizabeth M.

AU - Goldstein, Alisa M.

AU - Gruis, Nelleke A.

AU - Hansson, Johan

AU - Helsing, Per

AU - Hočevar, Marko

AU - Höiom, Veronica

AU - Ingvar, Christian

AU - Kanetsky, Peter A.

AU - Chen, Wei V.

AU - Landi, Maria Teresa

AU - Lang, Julie

AU - Lathrop, G. Mark

AU - Lubiński, Jan

AU - MacKie, Rona M.

AU - Mann, Graham J.

AU - Molven, Anders

AU - Montgomery, Grant W.

AU - Novaković, Srdjan

AU - Olsson, Håkan

AU - Puig, Susana

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.

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DO - 10.1038/ng.3373

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AN - SCOPUS:84940734774

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

Funding

UN SDGs

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