Cargando…
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further t...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485/ https://www.ncbi.nlm.nih.gov/pubmed/26237428 http://dx.doi.org/10.1038/ng.3373 |
_version_ | 1782388505309085696 |
---|---|
author | Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. Taylor, John C. Harland, Mark Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. Avril, Marie-Françoise Azizi, Esther Scarrà, Giovanna Bianchi Brown, Kevin M. Dębniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. Hansson, Johan Helsing, Per Hočevar, Marko Höiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. Landi, Maria Teresa Lang, Julie Lathrop, G. Mark Lubiński, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders Montgomery, Grant W. Novaković, Srdjan Olsson, Håkan Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton Demenais, Florence Amos, Christopher I. MacGregor, Stuart Iles, Mark M. |
author_facet | Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. Taylor, John C. Harland, Mark Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. Avril, Marie-Françoise Azizi, Esther Scarrà, Giovanna Bianchi Brown, Kevin M. Dębniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. Hansson, Johan Helsing, Per Hočevar, Marko Höiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. Landi, Maria Teresa Lang, Julie Lathrop, G. Mark Lubiński, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders Montgomery, Grant W. Novaković, Srdjan Olsson, Håkan Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton Demenais, Florence Amos, Christopher I. MacGregor, Stuart Iles, Mark M. |
author_sort | Law, Matthew H. |
collection | PubMed |
description | 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 two previously-reported but un-replicated loci and all thirteen established loci. Novel SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes including one involved in telomere biology. |
format | Online Article Text |
id | pubmed-4557485 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
record_format | MEDLINE/PubMed |
spelling | pubmed-45574852016-03-01 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. Taylor, John C. Harland, Mark Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. Avril, Marie-Françoise Azizi, Esther Scarrà, Giovanna Bianchi Brown, Kevin M. Dębniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. Hansson, Johan Helsing, Per Hočevar, Marko Höiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. Landi, Maria Teresa Lang, Julie Lathrop, G. Mark Lubiński, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders Montgomery, Grant W. Novaković, Srdjan Olsson, Håkan Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton Demenais, Florence Amos, Christopher I. MacGregor, Stuart Iles, Mark M. Nat Genet Article 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 two previously-reported but un-replicated loci and all thirteen established loci. Novel SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes including one involved in telomere biology. 2015-08-03 2015-09 /pmc/articles/PMC4557485/ /pubmed/26237428 http://dx.doi.org/10.1038/ng.3373 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. Taylor, John C. Harland, Mark Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. Avril, Marie-Françoise Azizi, Esther Scarrà, Giovanna Bianchi Brown, Kevin M. Dębniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. Hansson, Johan Helsing, Per Hočevar, Marko Höiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. Landi, Maria Teresa Lang, Julie Lathrop, G. Mark Lubiński, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders Montgomery, Grant W. Novaković, Srdjan Olsson, Håkan Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton Demenais, Florence Amos, Christopher I. MacGregor, Stuart Iles, Mark M. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title_full | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title_fullStr | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title_full_unstemmed | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title_short | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
title_sort | genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485/ https://www.ncbi.nlm.nih.gov/pubmed/26237428 http://dx.doi.org/10.1038/ng.3373 |
work_keys_str_mv | AT lawmatthewh genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT bishopdtimothy genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT leejeffreye genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT brossardmyriam genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT martinnicholasg genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT moseserick genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT songfengju genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT barrettjenniferh genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT kumarrajiv genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT eastondouglasf genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT pharoahpauldp genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT swerdlowanthonyj genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT kypreoukaterinap genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT taylorjohnc genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT harlandmark genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT randersonmoorjuliette genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT akslenlarsa genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT andresenpera genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT avrilmariefrancoise genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT aziziesther genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT scarragiovannabianchi genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT brownkevinm genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT debniaktadeusz genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT duffydavidl genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT elderdavide genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT fangshenying genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT friedmaneitan genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT galanpilar genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT ghiorzopaola genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT gillanderselizabethm genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT goldsteinalisam genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT gruisnellekea genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT hanssonjohan genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT helsingper genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT hocevarmarko genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT hoiomveronica genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT ingvarchristian genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT kanetskypetera genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT chenweiv genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT landimariateresa genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT langjulie genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT lathropgmark genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT lubinskijan genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT mackieronam genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT manngrahamj genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT molvenanders genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT montgomerygrantw genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT novakovicsrdjan genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT olssonhakan genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT puigsusana genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT puigbutillejoananton genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT qureshiabrara genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT radfordsmithgrahaml genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT vanderstoepnienke genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT vandoornremco genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT whitemandavidc genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT craigjamiee genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT schadendorfdirk genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT simmslisaa genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT burdonkathrynp genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT nyholtdaler genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT pooleykarena genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT orrnick genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT stratigosalexanderj genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT custannee genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT wardsarahv genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT haywardnicholask genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT hanjiali genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT schulzehansjoachim genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT dunningalisonm genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT bishopjuliaanewton genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT demenaisflorence genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT amoschristopheri genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT macgregorstuart genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma AT ilesmarkm genomewidemetaanalysisidentifiesfivenewsusceptibilitylociforcutaneousmalignantmelanoma |