Blue Eye Color May Be Linked With Greater Uveal Melanoma Risk and Poorer Prognosis
Source: American Academy of Ophthalmalogy, November 2024
A retrospective study based in the Netherlands found an apparent genetic link between blue eye color and poorer survival in patients with uveal melanoma—including a greater incidence of high-risk tumor development in patients with light eyes than in those with darker eyes—though larger, more diverse studies are needed to confirm these findings.
Study Design
This single-center study analyzed DNA isolated from peripheral blood leukocytes of 392 patients with uveal melanoma who underwent enucleation to look for known genetic markers of eye color and investigate the potential link between eye-color genetics and uveal melanoma prognosis. The HIrisPlex webtool (Erasmus Medical Center, Rotterdam, and Walsh Laboratory of Indiana University/Purdue University, Indianapolis) was used for eye color prediction based on DNA sequencing of 6 eye-color single nucleotide polymorphisms (SNPs). Overall survival was analyzed using Kaplan–Meier curves and Cox regression.
Outcomes
Based on genotype analysis, 307 patients (78%) had blue eyes and 74 (19%) had brown eyes; 11 (3%) could not be assigned to either blue or brown eyes. Patients with genetically blue eyes had worse overall survival, specifically related to a single blue eye G/G genotype of rs12913832 (HERC2), and were more likely to have high-risk, monosomy 3 tumors than patients with A/G or A/A (dark eye color) genotypes (HR 1.75).