期刊
NATURE GENETICS
卷 52, 期 5, 页码 494-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-020-0611-8
关键词
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资金
- Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)
- OCAC (NIH) [U19CA148112]
- SEARCH team (Cancer Research UK) [C490/A16561]
- AOCS (US Army Medical Research and Material Command) [DAMD17-01-1-0729]
- Cancer Council Victoria
- Queensland Cancer Fund
- Cancer Council New South Wales
- Cancer Council South Australia
- Cancer Foundation of Western Australia
- Cancer Council Tasmania
- National Health and Medical Research Council of Australia (NHMRC) [ID400413, ID400281]
- National Health and Medical Research Council of Australia (NHMRC) (Agar family)
- National Health and Medical Research Council of Australia (NHMRC) (Ovarian Cancer Action (UK))
- National Health and Medical Research Council of Australia (NHMRC) (Ovarian Cancer Australia)
- National Health and Medical Research Council of Australia (NHMRC) (Peter MacCallum Foundation)
- Intramural Research Program of the Division of Cancer Epidemiology and Genetics, NCI, NIH, DHHS
- Italian Ministry of Health
- AIRC [IG 15460]
- Spanish Fondo de Investigaciones Sanitarias grant - FEDER 'Una manera de hacer Europa' [PI15/00716, PI15/00956]
- CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain - European Development Regional Fund 'A way to achieve Europe' ERDF
- AGAUR of the Catalan Government, Spain [2014_SGR_603]
- European Commission [LSHC-CT-2006-018702]
- European Commission under the 7th Framework Programme, Diagnostics
- 'Fundacio La Marato de TV3', Catalonia, Spain [201331-30]
- 'Fundacion Cientifica de la Asociacion Espanola Contra el Cancer', Spain [GCB15152978SOEN]
- CERCA Programme/Generalitat de Catalunya
- Italian Ministry of the University and Scientific Research (PRIN-2012 grant) [2012JJX494]
- Melanoma Research Alliance
- NIH NCI [CA88363, CA83115, CA122838, CA87969, CA055075, CA100264, CA133996, CA49449]
- NHMRC [200071, 241944, 339462, 380385, 389927, 389875, 389891, 389892, 389938, 443036, 442915, 442981, 496610, 496675, 496739, 552485, 552498, APP1049894]
- Cancer Council Queensland
- Cancer Institute New South Wales
- Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Cerylid Biosciences (Melbourne)
- Australian Cancer Research Foundation
- Wellcome Trust [WT084766/Z/08/Z]
- Australian National Health and Medical Research Council
- Australian Research Council
- Department of Health and Human Services (DHHS)
- Cancer Research UK [19167, 10589] Funding Source: researchfish
Meta-analysis of 36,760 cases and 375,188 controls identifies 54 loci associated with susceptibility to cutaneous melanoma. Further analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma. Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 x 10(-8)) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis.
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