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

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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

Edité par CCSD ; Springer Nature -

International audience. 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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