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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

ABSTRACT: 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 × 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.

SUBMITTER: Landi MT

PROVIDER: S-EPMC7255059 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Landi Maria Teresa MT Bishop D Timothy DT MacGregor Stuart S Machiela Mitchell J MJ Stratigos Alexander J AJ Ghiorzo Paola P Brossard Myriam M Calista Donato D Choi Jiyeon J Fargnoli Maria Concetta MC Zhang Tongwu T Rodolfo Monica M Trower Adam J AJ Menin Chiara C Martinez Jacobo J Hadjisavvas Andreas A Song Lei L Stefanaki Irene I Scolyer Richard R Yang Rose R Goldstein Alisa M AM Potrony Miriam M Kypreou Katerina P KP Pastorino Lorenza L Queirolo Paola P Pellegrini Cristina C Cattaneo Laura L Zawistowski Matthew M Gimenez-Xavier Pol P Rodriguez Arantxa A Elefanti Lisa L Manoukian Siranoush S Rivoltini Licia L Smith Blair H BH Loizidou Maria A MA Del Regno Laura L Massi Daniela D Mandala Mario M Khosrotehrani Kiarash K Akslen Lars A LA Amos Christopher I CI Andresen Per A PA Avril Marie-Françoise MF Azizi Esther E Soyer H Peter HP Bataille Veronique V Dalmasso Bruna B Bowdler Lisa M LM Burdon Kathryn P KP Chen Wei V WV Codd Veryan V Craig Jamie E JE Dębniak Tadeusz T Falchi Mario M Fang Shenying S Friedman Eitan E Simi Sarah S Galan Pilar P Garcia-Casado Zaida Z Gillanders Elizabeth M EM Gordon Scott S Green Adele A Gruis Nelleke A NA Hansson Johan J Harland Mark M Harris Jessica J Helsing Per P Henders Anjali A Hočevar Marko M Höiom Veronica V Hunter David D Ingvar Christian C Kumar Rajiv R Lang Julie J Lathrop G Mark GM Lee Jeffrey E JE Li Xin X Lubiński Jan J Mackie Rona M RM Malt Maryrose M Malvehy Josep J McAloney Kerrie K Mohamdi Hamida H Molven Anders A Moses Eric K EK Neale Rachel E RE Novaković Srdjan S Nyholt Dale R DR Olsson Håkan H Orr Nicholas N Fritsche Lars G LG Puig-Butille Joan Anton JA Qureshi Abrar A AA Radford-Smith Graham L GL Randerson-Moor Juliette J Requena Celia C Rowe Casey C Samani Nilesh J NJ Sanna Marianna M Schadendorf Dirk D Schulze Hans-Joachim HJ Simms Lisa A LA Smithers Mark M Song Fengju F Swerdlow Anthony J AJ van der Stoep Nienke N Kukutsch Nicole A NA Visconti Alessia A Wallace Leanne L Ward Sarah V SV Wheeler Lawrie L Sturm Richard A RA Hutchinson Amy A Jones Kristine K Malasky Michael M Vogt Aurelie A Zhou Weiyin W Pooley Karen A KA Elder David E DE Han Jiali J Hicks Belynda B Hayward Nicholas K NK Kanetsky Peter A PA Brummett Chad C Montgomery Grant W GW Olsen Catherine M CM Hayward Caroline C Dunning Alison M AM Martin Nicholas G NG Evangelou Evangelos E Mann Graham J GJ Long Georgina G Pharoah Paul D P PDP Easton Douglas F DF Barrett Jennifer H JH Cust Anne E AE Abecasis Goncalo G Duffy David L DL Whiteman David C DC Gogas Helen H De Nicolo Arcangela A Tucker Margaret A MA Newton-Bishop Julia A JA Peris Ketty K Chanock Stephen J SJ Demenais Florence F Brown Kevin M KM Puig Susana S Nagore Eduardo E Shi Jianxin J Iles Mark M MM Law Matthew H MH

Nature genetics 20200427 5

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 × 10<sup>-8</sup>) 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 nev ...[more]

PMID: 32341527

Dataset Information

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Publications

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

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