Ερευνητικό υλικό ΕΚΠΑ

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

Αγγλικά

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unpublished) and a further three stage 2 data sets, totaling 15,990 CMM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 x 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.

2015

Law, Matthew H.
Bishop, D. Timothy
Lee, Jeffrey E.
Brossard,
Myriam
Martin, Nicholas G.
Moses, Eric K.
Song, Fengju and
Barrett, Jennifer H.
Kumar, Rajiv
Easton, Douglas F. and
Pharoah, Paul D. P.
Swerdlow, Anthony J.
Kypreou, Katerina P.
and Taylor, John C.
Harland, Mark
Randerson-Moor, Juliette and
Akslen, Lars A.
Andresen, Per A.
Avril, Marie-Franoise and
Azizi, Esther
Scarra, Giovanna Bianchi
Brown, Kevin M. and
Debniak, Tadeusz
Duffy, David L.
Elder, David E.
Fang,
Shenying
Friedman, Eitan
Galan, Pilar
Ghiorzo, Paola and
Gillanders, Elizabeth M.
Goldstein, Alisa M.
Gruis, Nelleke A.
and Hansson, Johan
Helsing, Per
Hocevar, Marko
Hoeiom,
Veronica
Ingvar, Christian
Kanetsky, Peter A.
Chen, Wei V.
and Landi, Maria Teresa
Lang, Julie
Lathrop, G. Mark and
Lubinski, Jan
Mackie, Rona M.
Mann, Graham J.
Molven, Anders
and Montgomery, Grant W.
Novakovic, Srdjan
Olsson, Hakan and
Puig, Susana
Puig-Butille, Joan Anton
Qureshi, Abrar A. and
Radford-Smith, Graham L.
van der Stoep, Nienke
van Doorn, Remco
and Whiteman, David C.
Craig, Jamie E.
Schadendorf, Dirk and
Simms, Lisa A.
Burdon, Kathryn P.
Nyholt, Dale R.
Pooley,
Karen A.
Orr, Nick
Stratigos, Alexander J.
Cust, Anne E. and
Ward, Sarah V.
Hayward, Nicholas K.
Han, Jiali
Schulze,
Hans-Joachim
Dunning, Alison M.
Bishop, Julia A. Newton and
Demenais, Florence
Amos, Christopher I.
MacGregor, Stuart and
Iles, Mark M.
GenoMEL Consortium
Essen-Heidelberg Investigators
and SDH Study Grp
Q-MEGA QTWIN Investigators
AMFS Investigators
and ATHENS Melanoma Study Grp

Nature Genetics

Nature Publishing Group

47

9

987+

https://doi.org/10.1038/ng.3373

10.1038/ng.3373

https://pergamos.lib.uoa.gr/uoa/dl/object/3167137