1 research outputs found
Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis
Cutaneous melanoma is the most aggressive of skin tumors. In order to discover new
biomarkers that could help us improve prognostic prediction in melanoma patients, we have searched
for germline DNA variants associated with melanoma progression. Thus, after exome sequencing of
a set of melanoma patients and healthy control individuals, we identified rs1042602, an SNP within
TYR, as a good candidate. After genotyping rs1042602 in 1025 patients and 773 healthy donors, we
found that the rs1042602-A allele was significantly associated with susceptibility to melanoma (CATT
test: p = 0.0035). Interestingly, we also observed significant differences between patients with good
and bad prognosis (5 years of follow-up) (n = 664) (CATT test for all samples p = 0.0384 and for men
alone p = 0.0054). Disease-free-survival (DFS) analyses also showed that patients with the A allele
had shorter DFS periods. In men, the association remained significant even in a multivariate Cox
Proportional-hazards model, which was adjusted for age at diagnosis, Breslow thickness, ulceration
and melanoma subtype (HR 0.4; 95% confidence interval (CI) 0.20–0.83; p = 0.0139). Based on our
results, we propose that rs1042602-A is a risk allele for melanoma, which also seems to be responsible
for a poorer prognosis of the disease, particularly in men