Photo Credit: Michael Lutz

The following is a summary of “Survival in uveal melanoma patients is linked to genetic variation at HERC2 SNP rs12913832,” published in the September 2024 issue of Ophthalmology by Gelmi et al. 

Uveal melanoma (UM) is a rare cancer with the highest incidence in individuals with fair skin and light eyes. 

Researchers conducted a prospective study to investigate the relationship between eye color-related SNPs and survival in patients with UM. 

They isolated DNA from peripheral blood leukocytes of 392 patients with UM who underwent enucleation. They sequenced 6 common eye color-related single nucleotide polymorphisms (SNPs) using the HIrisPlex-S assay. The genotypes were analyzed using the Hirisplex webtool for eye color prediction. Associations between SNPs and tumor characteristics, chromosome aberrations, and patient survival were evaluated using Pearson’s chi-square test, Mann-Whitney U test, Kaplan-Meier curves, and Cox regression. 

The results showed that out of the 392 patients with analyzable genotype data, 307 (78%) were assigned blue eyes, 74 (19%) were assigned brown eyes, and 11 (3%) could not be assigned to either color. Patients with a genetically blue eye color had worse survival outcomes (P= 0.04). This was linked to the G/G genotype of rs12913832 (HERC2), which codes for blue eyes, and was associated with a poorer prognosis (P= 0.017) due to a higher likelihood of high-risk tumors (monosomy of chromosome 3, P= 0.04) compared to patients with an A/G or A/A genotype. 

The study concluded that the G/G genotype of rs12913832 (HERC2), linked to blue eye color, was associated with worse prognosis in UM due to a higher risk of developing high-risk tumors. 

Source: aaojournal.org/article/S0161-6420(24)00540-2/fulltext