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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Detalles Bibliográficos
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
Descripción
Sumario: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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