Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/305992

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Title: Genome-wide association study identifies novel loci predisposing to cutaneous melanoma
Related: Human molecular genetics, Vol. 20, No. 24, (2011), p.5012-5023
DOI: 10.1093/hmg/ddr415
Publisher: Oxford University Press
Date: 2011
Author/Creator: Amos, Christopher I
Author/Creator: Wang, Li-E
Author/Creator: Schacherer, Christopher W
Author/Creator: Taylor, John C
Author/Creator: Whittaker, Linda
Author/Creator: Kukalizch, Kairen
Author/Creator: Leake, Susan
Author/Creator: Karpavicius, Birute
Author/Creator: Haynes, Sue
Author/Creator: Mack, Tricia
Author/Creator: Chan, May
Author/Creator: Taylor, Yvonne
Author/Creator: Davies, John
Author/Creator: Gardner, Julie M
Author/Creator: King, Paul
Author/Creator: Gruis, Nelleke A
Author/Creator: van Nieuwpoort, Frans A
Author/Creator: Out, Coby
Author/Creator: van der Drift, Clasine
Author/Creator: Bergman, Wilma
Author/Creator: Kukutsch, Nicole
Author/Creator: Bouwes Bavinck, Jan Nico
Author/Creator: Bakker, Bert
Author/Creator: van der Stoep, Nienke
Author/Creator: Wang, Yuling
Author/Creator: ter Huurne, Jeanet
Author/Creator: van der Rhee, Han
Author/Creator: Bekkenk, Marcel
Author/Creator: Snels, Dyon
Author/Creator: van Praag, Marinus
Author/Creator: Brochez, Lieve
Author/Creator: Gerritsen, Rianne
Author/Creator: Crijns, Marianne
Author/Creator: Vasen, Hans
Author/Creator: Olsson, Håkan
Author/Creator: Bishop, D. Tim
Author/Creator: Ingvar, Christian
Author/Creator: Jönsson, Göron
Author/Creator: Borg, Åke
Author/Creator: Måsbäck, Anna
Author/Creator: Lundgren, Lotta
Author/Creator: Baeckenhorn, Katja
Author/Creator: Nielsen, Kari
Author/Creator: Schmidt Casslén, Anita
Author/Creator: Helsing, Per
Author/Creator: Andresen, Per Arne
Author/Creator: Barrett, Jennifer H
Author/Creator: Rootwelt, Helge
Author/Creator: Akslen, Lars
Author/Creator: Molven, Anders
Author/Creator: Avril, Marie-Françoise
Author/Creator: Bressac-de Paillerets, Brigitte
Author/Creator: Chaudru, Valérie
Author/Creator: Chateigner, Nicolas
Author/Creator: Corda, Eve
Author/Creator: Jeannin, Patricia
Author/Creator: Lesueur, Fabienne
Author/Creator: MacGregor, Stuart
Author/Creator: de Lichy, Mahaut
Author/Creator: Maubec, Eve
Author/Creator: Mohamdi, Hamida
Author/Creator: Demenais, Florence
Author/Creator: Andry-Benzaquen, Pascale
Author/Creator: Bachollet, Bertrand
Author/Creator: Bérard, Frédéric
Author/Creator: Berthet, Pascaline
Author/Creator: Boitier, Françoise
Author/Creator: Bonadona, Valére
Author/Creator: Hayward, Nicholas K
Author/Creator: Bonafé, Jean-Louis
Author/Creator: Bonnetblanc, Jean-Marie
Author/Creator: Cambazard, Frédéric
Author/Creator: Caron, Olivier
Author/Creator: Caux, Frédéric
Author/Creator: Chevrant-Breton, Jacqueline
Author/Creator: Chompret, Angès
Author/Creator: Dalle, Stéphane
Author/Creator: Demange, Liliane
Author/Creator: Dereure, Olivier
Author/Creator: Martin, Nicholas G
Author/Creator: Doré, Martin-Xavier
Author/Creator: Doutre, Marie-Sylvie
Author/Creator: Dugast, Catherine
Author/Creator: Faivre, Laurence
Author/Creator: Grange, Florent
Author/Creator: Humbert, Philippe
Author/Creator: Joly, Pascal
Author/Creator: Kerob, Delphine
Author/Creator: Lasset, Christine
Author/Creator: Leccia, Marie Thérèse
Author/Creator: Duffy, David L
Author/Creator: Lenoir, Gilbert
Author/Creator: Leroux, Dominique
Author/Creator: Levang, Julien
Author/Creator: Lipsker, Dan
Author/Creator: Mansard, Sandrine
Author/Creator: Martin, Ludovic
Author/Creator: Martin-Denavit, Tanguy
Author/Creator: Mateus, Christine
Author/Creator: Michel, Jean- Loïc
Author/Creator: Morel, Patrice
Author/Creator: Mann, Graham J
Author/Creator: Olivier-Faivre, Laurence
Author/Creator: Perrot, Jean-Luc
Author/Creator: Robert, Caroline
Author/Creator: Ronger-Savle, Sandra
Author/Creator: Sassolas, Bruno
Author/Creator: Souteyrand, Pierre
Author/Creator: Stoppa-Lyonnet, Dominique
Author/Creator: Thomas, Luc
Author/Creator: Vabres, Pierre
Author/Creator: Wierzbicka, Eva
Author/Creator: Lee, Jeffrey E
Author/Creator: Cust, Anne
Author/Creator: Elder, David
Author/Creator: Kanetsky, Peter
Author/Creator: Knorr, Jillian
Author/Creator: Ming, Michael
Author/Creator: Mitra, Nandita
Author/Creator: Ruffin, Althea
Author/Creator: Van Belle, Patricia
Author/Creator: Dębniak, Tadeusz
Author/Creator: Lubiński, Jan
Author/Creator: Mirecka, Aneta
Author/Creator: Hopper, John
Author/Creator: Ertmański, Sławomir
Author/Creator: Novakovic, Srdjan
Author/Creator: Hocevar, Marko
Author/Creator: Peric, Barbara
Author/Creator: Cerkovnik, Petra
Author/Creator: Höiom, Veronica
Author/Creator: Hansson, Johan
Author/Creator: Holland, Elizabeth A
Author/Creator: Azizi, Esther
Author/Creator: Galore-Haskel, Gilli
Author/Creator: Brown, Kevin M
Author/Creator: Friedman, Eitan
Author/Creator: Baron-Epel, Orna
Author/Creator: Scope, Alon
Author/Creator: Pavlotsky, Felix
Author/Creator: Yakobson, Emanuel
Author/Creator: Cohen-Manheim, Irit
Author/Creator: Laitman, Yael
Author/Creator: Milgrom, Roni
Author/Creator: Shimoni, Iris
Author/Creator: Kozlovaa, Evgeniya
Author/Creator: Grimm, Elizabeth A
Author/Creator: Xu, Yaji
Author/Creator: Han, Younghun
Author/Creator: Jing, Kaiyan
Author/Creator: McHugh, Caitlin
Author/Creator: Laurie, Cathy C
Author/Creator: Doheny, Kim F
Author/Creator: Gershenwald, Jeffrey E
Author/Creator: Pugh, Elizabeth W
Author/Creator: Seldin, Michael F
Author/Creator: Han, Jiali
Author/Creator: Wei, Qingyi
Author/Creator: Aitken, Joanne F
Author/Creator: Armstrong, Bruce K
Author/Creator: Giles, Graham G
Author/Creator: Kefford, Richard F
Author/Creator: Chen, Wei V
Author/Creator: Jenkins, Mark A
Author/Creator: Schmid, Helen
Author/Creator: Aguilera, Paula
Author/Creator: Badenas, Celia
Author/Creator: Carrera, Cristina
Author/Creator: Cuellar, Francisco
Author/Creator: Gabriel, Daniel
Author/Creator: Martinez, Estefania
Author/Creator: Gonzalez, Melinda
Author/Creator: Fang, Shenying
Author/Creator: Iglesias, Pablo
Author/Creator: Malvehy, Josep
Author/Creator: Marti-Laborda, Rosa
Author/Creator: Mila, Montse
Author/Creator: Ogbah, Zighe
Author/Creator: Puig Butille, Joan-Anton
Author/Creator: Puig, Susana
Author/Creator: Alós, Llúcia
Author/Creator: Arance, Ana
Author/Creator: Arguís, Pedro
Author/Creator: Kosoy, Roman
Author/Creator: Campo, Antonio
Author/Creator: Castel, Teresa
Author/Creator: Conill, Carlos
Author/Creator: Palou, Jose
Author/Creator: Rull, Ramon
Author/Creator: Sánchez, Marcelo
Author/Creator: Vidal-Sicart, Sergi
Author/Creator: Vilalta, Antonio
Author/Creator: Vilella, Ramon
Author/Creator: Montgomery, Grant W
Author/Creator: Zhang, Mingfeng
Author/Creator: Whiteman, David C
Author/Creator: Webb, Penny
Author/Creator: Green, Adele
Author/Creator: Parsons, Peter
Author/Creator: Purdie, David
Author/Creator: Landi, Maria Teresa
Author/Creator: Calista, Donato
Author/Creator: Landi, Giorgio
Author/Creator: Minghetti, Paola
Author/Creator: Arcangeli, Fabio
Author/Creator: Qureshi, Abrar A
Author/Creator: Bertazzi, Pier Alberto
Author/Creator: Bianchi-Scarra, Giovanna
Author/Creator: Ghiorzo, Paola
Author/Creator: Pastorino, Lorenza
Author/Creator: Bruno, William
Author/Creator: Battistuzzi, Linda
Author/Creator: Gargiulo, Sara
Author/Creator: Nasti, Sabina
Author/Creator: Gliori, Sara
Author/Creator: Origone, Paola
Author/Creator: Vattathil, Selina
Author/Creator: Andreotti, Virginia
Author/Creator: Queirolo, Paola
Author/Creator: Mackie, Rona
Author/Creator: Lang, Julie
Author/Creator: Newton Bishop, Julia A
Author/Creator: Affleck, Paul
Author/Creator: Harrison, Jane
Author/Creator: Iles, Mark M
Author/Creator: Randerson-Moor, Juliette
Author/Creator: Harland, Mark
Description: We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 x 10 ⁻¹⁰). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.
Description: 12 page(s)
Subject Keyword: 111200 Oncology and Carcinogenesis
Resource Type: journal article
Organisation: Macquarie University. Australian School of Advanced Medicine

Identifier: http://hdl.handle.net/1959.14/305992
Identifier: mq:33308
Identifier: ISSN:0964-6906
Identifier: mq-rm-2013005410
Identifier: mq_res-ext-2-s2.0-81855199793
Language: eng
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