A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1...

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Autores principales: Mobuchon, Lenha, Battistella, Aude, Bardel, Claire, Scelo, Ghislaine, Renoud, Alexia, Houy, Alexandre, Cassoux, Nathalie, Milder, Maud, Cancel-Tassin, Géraldine, Cussenot, Olivier, Delattre, Olivier, Besse, Céline, Boland, Anne, Deleuze, Jean-François, Cox, David G., Stern, Marc-Henri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542017/
https://www.ncbi.nlm.nih.gov/pubmed/28781888
http://dx.doi.org/10.1038/s41525-017-0008-5
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author Mobuchon, Lenha
Battistella, Aude
Bardel, Claire
Scelo, Ghislaine
Renoud, Alexia
Houy, Alexandre
Cassoux, Nathalie
Milder, Maud
Cancel-Tassin, Géraldine
Cussenot, Olivier
Delattre, Olivier
Besse, Céline
Boland, Anne
Deleuze, Jean-François
Cox, David G.
Stern, Marc-Henri
author_facet Mobuchon, Lenha
Battistella, Aude
Bardel, Claire
Scelo, Ghislaine
Renoud, Alexia
Houy, Alexandre
Cassoux, Nathalie
Milder, Maud
Cancel-Tassin, Géraldine
Cussenot, Olivier
Delattre, Olivier
Besse, Céline
Boland, Anne
Deleuze, Jean-François
Cox, David G.
Stern, Marc-Henri
author_sort Mobuchon, Lenha
collection PubMed
description Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1.7, CI 1.43–2.05). This locus was replicated in an independent set of 276 cases and 184 controls. In addition, risk variants from this region were positively associated with higher expression of CLPTM1L. In conclusion, the CLPTM1L region contains risk alleles for uveal melanoma susceptibility, suggesting that CLPTM1L could play a role in uveal melanoma oncogenesis.
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spelling pubmed-55420172017-08-03 A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus Mobuchon, Lenha Battistella, Aude Bardel, Claire Scelo, Ghislaine Renoud, Alexia Houy, Alexandre Cassoux, Nathalie Milder, Maud Cancel-Tassin, Géraldine Cussenot, Olivier Delattre, Olivier Besse, Céline Boland, Anne Deleuze, Jean-François Cox, David G. Stern, Marc-Henri NPJ Genom Med Article Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1.7, CI 1.43–2.05). This locus was replicated in an independent set of 276 cases and 184 controls. In addition, risk variants from this region were positively associated with higher expression of CLPTM1L. In conclusion, the CLPTM1L region contains risk alleles for uveal melanoma susceptibility, suggesting that CLPTM1L could play a role in uveal melanoma oncogenesis. Nature Publishing Group UK 2017-03-10 /pmc/articles/PMC5542017/ /pubmed/28781888 http://dx.doi.org/10.1038/s41525-017-0008-5 Text en © The Author(s) 2017 This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Mobuchon, Lenha
Battistella, Aude
Bardel, Claire
Scelo, Ghislaine
Renoud, Alexia
Houy, Alexandre
Cassoux, Nathalie
Milder, Maud
Cancel-Tassin, Géraldine
Cussenot, Olivier
Delattre, Olivier
Besse, Céline
Boland, Anne
Deleuze, Jean-François
Cox, David G.
Stern, Marc-Henri
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_full A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_fullStr A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_full_unstemmed A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_short A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_sort gwas in uveal melanoma identifies risk polymorphisms in the clptm1l locus
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542017/
https://www.ncbi.nlm.nih.gov/pubmed/28781888
http://dx.doi.org/10.1038/s41525-017-0008-5
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