SLC45A2 Germilne Variants in Colombian Population with Melanoma

Abstract

The SLC45A2 gene, located at chromosome 5p13.2, is involved in melanin biosynthesis. Single Nucleotide Variant (SNVs) in this gene have been associated with normal variation of skin, eye and hair color in human population. Additionally, there are SNVs like L374F (C/T) and E272K (c/G) that are associated with protection against melanoma. In this project, in a survey of Bogota, Colombia people, both SNVs mentioned before were evaluated in a case and controls study. DNA samples were isolated with commercial kits, prior signing of the informed consent. The genotypification was done through RT-PCR HRM technique. We found that 19% of the individuals were classified as phototype II, 70% phototype III and 11% phototype IV. In addition, 80% of the subjects had brown eyes and dark-brown hair. Both SNVs were in Hardy-Weinberg equilibrium. Allelic frequencies were C=0.644, T=0.356 and C=0.756, G=0.244 for E272K and L374F, respectively. None of the variants analyzed had association with melanoma developing. Haplotype analysis adjusted by sex and phototype shown a higher risk of having melanoma with individuals having CG genotype, OR:2.75 (IC 95% 1.22-6.22 p=0.021). The frequencies found for the variants of SLC45A2 gene in this project is accord with many other studies done with Latin-American population, were phototype II and III are the prevalent in people.