Genome-wide association study identifies three new melanoma susceptibility loci

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Martinez Chamorro, EstebanAuthorCarrera Alvarez, CristinaAuthorAguilera Peiro, PaulaAuthorSanchez Sanchez, MiguelAuthorVilella Puig, RamonAuthorVidal Sicart, SergiAuthorAlos Hernandez, LluciaAuthorConill Llobet, CarlosAuthorVidal Rosa, SandraAuthorIglesias Garcia, PabloAuthorGabriel Amezaga, DanielAuthorArance Fernández, AnaAuthorGonzalez Ruiz, MercedesAuthorBadenas Orquin, CeliaAuthorMalvehy, JAuthorPuig, SAuthorPuig-Butille, JaAuthor

January 29, 2014

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Publicated to: NATURE GENETICS. 43 (11): 1108-1113 - 2011-11-01 43(11), DOI: 10.1038/ng.959

Authors:

Barrett, Jennifer H; Iles, Mark M; Harland, Mark; Taylor, John C; Aitken, Joanne F; Andresen, Per Arne; Akslen, Lars A; Armstrong, Bruce K; Avril, Marie-Francoise; Azizi, Esther; Bakker, Bert; Bergman, Wilma; Bianchi-Scarra, Giovanna; Bressac-de Paillerets, Brigitte; Calista, Donato; Cannon-Albright, Lisa A; Corda, Eve; Cust, Anne E; Debniak, Tadeusz; Duffy, David; Dunning, Alison M; Easton, Douglas F; Friedman, Eitan; Galan, Pilar; Ghiorzo, Paola; Giles, Graham G; Hansson, Johan; Hocevar, Marko; Hoeiom, Veronica; Hopper, John L; Ingvar, Christian; Janssen, Bart; Jenkins, Mark A; Joensson, Goeran; Kefford, Richard F; Landi, Giorgio; Landi, Maria Teresa; Lang, Julie; Lubinski, Jan; Mackie, Rona; Malvehy, Josep; Martin, Nicholas G; Molven, Anders; Montgomery, Grant W; van Nieuwpoort, Frans A; Novakovic, Srdjan; Olsson, Hakan; Pastorino, Lorenza; Puig, Susana; Puig-Butille, Joan Anton; Randerson-Moor, Juliette; Snowden, Helen; Tuominen, Rainer; VanBelle, Patricia; van der Stoep, Nienke; Whiteman, David C; Zelenika, Diana; Han, Jiali; Fang, Shenying; Lee, Jeffrey E; Wei, Qingyi; Lathrop, G Mark; Gillanders, Elizabeth M; Brown, Kevin M; Goldstein, Alisa M; Kanetsky, Peter A; Mann, Graham J; MacGregor, Stuart; Elder, David E; Amos, Christopher I; Hayward, Nicholas K; Gruis, Nelleke A; Demenais, Florence; Bishop, Julia A Newton; Bishop, D Timothy

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Affiliations

Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia - Author

Canc Council, Viertel Ctr Res Canc Control, Brisbane, Qld, Australia - Author

Commissariat Energie Atom, Inst Genom, Ctr Natl Genotypage, Evry, France - Author

Ctr Rech Nutr Humaine, Inst Natl Rech Agron, U1125, Bobigny, France - Author

Fdn Jean Daussel CEPH, INSERM, U946, Paris, France - Author

Harvard Univ, Brigham & Womens Hosp, Sch Med, Channing Lab,Dept Med, Boston, MA 02115 USA - Author

Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Dermatol, Boston, MA 02115 USA - Author

Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA - Author

Haukeland Hosp, Dept Pathol, N-5021 Bergen, Norway - Author

INSERM, UMR U557, Bobigny, France - Author

Inst Canc Gustave Roussy, Serv Genet, Dept Biopathol, Villejuif, France - Author

Inst Oncol Ljubljana, Ljubljana, Slovenia - Author

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain - Author

Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden - Author

Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, Leiden, Netherlands - Author

Leiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands - Author

Maurizio Bufalini Hosp, Dermatol Unit, Cesena, Italy - Author

NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA - Author

Oslo Univ Hosp, Rikshosp, Dept Pathol, Oslo, Norway - Author

Pomeranian Med Univ, Int Hereditary Canc Ctr, Szczecin, Poland - Author

Queensland Inst Med Res, Brisbane, Qld 4006, Australia - Author

ServiceXS, Leiden, Netherlands - Author

Sheba Med Ctr, Dept Dermatol, Tel Hashomer, Israel - Author

Sheba Med Ctr, Oncogenet Unit, Tel Hashomer, Israel - Author

St James Univ Hosp, Leeds Canc Res UK Ctr, Leeds Inst Mol Med, Epidemiol & Biostat Sect, Leeds, W Yorkshire, England - Author

St James's University Hospital - Author

Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel - Author

Univ Barcelona, Inst Invest Biomed August Pi Sune, Dept Dermatol, Melanoma Unit,Hosp Clin, Barcelona, Spain - Author

Univ Bergen, Gade Inst, Bergen, Norway - Author

Univ Cambridge, Dept Oncol, Cambridge, England - Author

Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England - Author

Univ Descartes, Serv Dermatol, Hop Cochin, Assistance Publ Hop Paris, Paris, France - Author

Univ Genoa, Dept Internal Med, I-16126 Genoa, Italy - Author

Univ Glasgow, Dept Med Genet, Glasgow, Lanark, Scotland - Author

Univ Lund Hosp, Dept Oncol, S-22185 Lund, Sweden - Author

Univ Lund Hosp, Dept Surg, S-22185 Lund, Sweden - Author

Univ Melbourne, Sch Populat Hlth, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia - Author

Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA - Author

Univ Sydney, Sydney Sch Publ Hlth, Sydney, NSW 2006, Australia - Author

Univ Utah, Sch Med, Dept Internal Med, Div Genet Epidemiol, Salt Lake City, UT USA - Author

Westmead Millennium Inst, Westmead, NSW, Australia - Author

Abstract

We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.

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Keywords

CancerCàncer de pellCase-control studiesCutaneous malignant-melanomaGeneGenetic predisposition to diseaseGenética médicaGenome-wide association studyHumansLow-density-lipoproteinMedical geneticsMelanomaMetaanalysisPolymorphism, single nucleotidePopulationQuestionnairesRiskSkin cancerSkin neoplasmsWomen

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Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal NATURE GENETICS due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2011, it was in position 2/158, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-03:

WoS: 208
Scopus: 191
Europe PMC: 180

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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Australia; France; Israel; Italy; Netherlands; Norway; Poland; Slovenia; Sweden; United Kingdom; United States; United States of America.