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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)494-504-504
RivistaNature Genetics
Volume52
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Male
  • Melanoma
  • Phenotype
  • Pigmentation
  • Polymorphism, Single Nucleotide
  • Skin Neoplasms

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