rs11074306 - OCA2

Magnitude 4.5 · 1 study on file

Reported associations

• A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus - Unknown journal (n.d.) · Unknown authors · PubMed 28781888

  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. Cancer: Risk allele identified for melanoma of the eye Researchers have discovered an important genetic risk variant

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