Poster presentation, P130

Official XXIst International Pigment Cell Conference website - 21-24 Sept 2011, Bordeaux - France | updated: September 04 2011

Role of GC transporter and VitD receptor genes on melanoma susceptibility

BACKGROUND AND OBJECTIVES: Currently, vitamin D (VitD) has been recognized as a prohormone with multiple functions to maintain optimal health. Vitamin D3, also known as cholecalciferol, is synthesized in skin exposed to sunlight. Cholecalciferol is converted in the liver in 25-hydroxy-vitamin D, which is the most abundant in serum. Several studies have detected insufficient levels of VitD widely in apparently healthy populations worldwide. In addition to its known role in maintaining bone homeostasis, VitD sufficiency, along with controlled solar exposure, has been linked to lower risk of many cancers, including melanoma and various complex diseases. Polymorphisms on this pathway gene, cholecalciferol transporter gene GC and VitD receptor gene VDR might modulate VitD levels as well as melanoma risk. METHODS: We present a case-control study in Spanish population including 519 melanoma patients and 330 control subjects frequency-matched for sex and age. Phenotypic information was collected using a standardised questionnaire. All studied subjects gave informed consent. Functional (from coding and regulatory regions) SNPs with MAF < 0.5 were selected using HapMap database. RESULTS: Eleven SNPs in the GC gene and nine in the VDR gene, belonging to the VitD synthesis pathway were finally selected. The genetic variability was analyzed by Kaspar and Taqman technology. Genotyping of the GC and VDR genes, LD and haplotype studies will be performed. CONCLUSIONS: Associations with melanoma and pigmentary characteristics such as hair, skin and eye colour will be discussed. These results will confirm the melanoma susceptibility role of the GC and VDR genes in Spanish population.

Advertisement from our sponsor: