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Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Abstract
While the role of genetic risk factors in the etiology of uveal melanoma (UM) has been strongly suggested, the genetic susceptibility to UM is currently vastly unexplored. Due to shared epidemiological risk factors between cutaneous melanoma (CM) and UM, in this study we have selected 28 SNPs identified as risk variants in previous genome-wide association studies on CM or CM-related host phenotypes (such as pigmentation and eye color) and tested them for association with UM risk. By logistic regression analysis of 272 UM cases and 1782 controls using an additive model, we identified five variants significantly associated with UM risk, all passing adjustment for multiple testing. The three most significantly associated variants rs12913832 (OR = 0.529, 95% CI 0.415-0.673; p = 8.47E-08), rs1129038 (OR = 0.533, 95% CI 0.419-0.678; p = 1.19E-07) and rs916977 (OR = 0.465, 95% CI 0.339-0.637; p = 3.04E-07) are correlated (r(2) > 0.5) and map at 15q12 in the region of HERC2/OCA2, which determines eye-color in the human population. Our data provides first evidence that the genetic factors associated with pigmentation traits are risk loci of UM susceptibility.
AuthorsRobert Ferguson, Matjaz Vogelsang, Esma Ucisik-Akkaya, Karan Rai, Robert Pilarski, Carlos N Martinez, Justin Rendleman, Esther Kazlow, Khagay Nagdimov, Iman Osman, Robert J Klein, Frederick H Davidorf, Colleen M Cebulla, Mohamed H Abdel-Rahman, Tomas Kirchhoff
JournalScientific reports (Sci Rep) Vol. 6 Pg. 31191 (08 08 2016) ISSN: 2045-2322 [Electronic] England
PMID27499155 (Publication Type: Journal Article)
Chemical References
  • Biomarkers, Tumor
Topics
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor (genetics, metabolism)
  • Female
  • Genetic Loci
  • Genome-Wide Association Study
  • Humans
  • Male
  • Melanoma (genetics, metabolism, pathology)
  • Middle Aged
  • Pigmentation (genetics)
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Uveal Neoplasms (genetics, metabolism, pathology)

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