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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

ABSTRACT: Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

SUBMITTER: Law MH 

PROVIDER: S-EPMC4557485 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Law Matthew H MH   Bishop D Timothy DT   Lee Jeffrey E JE   Brossard Myriam M   Martin Nicholas G NG   Moses Eric K EK   Song Fengju F   Barrett Jennifer H JH   Kumar Rajiv R   Easton Douglas F DF   Pharoah Paul D P PDP   Swerdlow Anthony J AJ   Kypreou Katerina P KP   Taylor John C JC   Harland Mark M   Randerson-Moor Juliette J   Akslen Lars A LA   Andresen Per A PA   Avril Marie-Françoise MF   Azizi Esther E   Scarrà Giovanna Bianchi GB   Brown Kevin M KM   Dębniak Tadeusz T   Duffy David L DL   Elder David E DE   Fang Shenying S   Friedman Eitan E   Galan Pilar P   Ghiorzo Paola P   Gillanders Elizabeth M EM   Goldstein Alisa M AM   Gruis Nelleke A NA   Hansson Johan J   Helsing Per P   Hočevar Marko M   Höiom Veronica V   Ingvar Christian C   Kanetsky Peter A PA   Chen Wei V WV   Landi Maria Teresa MT   Lang Julie J   Lathrop G Mark GM   Lubiński Jan J   Mackie Rona M RM   Mann Graham J GJ   Molven Anders A   Montgomery Grant W GW   Novaković Srdjan S   Olsson Håkan H   Puig Susana S   Puig-Butille Joan Anton JA   Qureshi Abrar A AA   Radford-Smith Graham L GL   van der Stoep Nienke N   van Doorn Remco R   Whiteman David C DC   Craig Jamie E JE   Schadendorf Dirk D   Simms Lisa A LA   Burdon Kathryn P KP   Nyholt Dale R DR   Pooley Karen A KA   Orr Nick N   Stratigos Alexander J AJ   Cust Anne E AE   Ward Sarah V SV   Hayward Nicholas K NK   Han Jiali J   Schulze Hans-Joachim HJ   Dunning Alison M AM   Bishop Julia A Newton JAN   Demenais Florence F   Amos Christopher I CI   MacGregor Stuart S   Iles Mark M MM  

Nature genetics 20150803 9

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10(-8)), as did 2 previously reported  ...[more]

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