A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Lenha Mobuchon, Aude Battistella, Claire Bardel, Ghislaine Scelo, Alexia Renoud, Alexandre Houy, Nathalie Cassoux, Maud Milder, Géraldine Cancel-Tassin, Olivier Cussenot, Olivier Delattre, Céline Besse, Anne Boland, Jean-François Deleuze, David G. Cox, Marc-Henri Stern

ABSTRACT

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. More... »

PAGES

5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41525-017-0008-5

DOI

http://dx.doi.org/10.1038/s41525-017-0008-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084130030

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28781888


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