Poster presentation, P129

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

GSTs genes and genetic susceptibility to Melanoma

BACKGROUND AND OBJECTIVES: The aetiology of melanoma is complex and likely involves multiple low penetrance susceptibility genes, interactions among these genes, the influences of environmental exposures and the interaction of genotypes and environments. The melanocortin-1 receptor (MC1R) low penetrance gene is responsible for constitutive pigment variation in humans and also appears as a risk factor for melanoma. Moreover, the key environmental risk factor is exposure to the ultraviolet (UV) component in sunlight, which causes various kinds of DNA damage, including bulky lesions and oxidative damage. Glutathione S-Transferases (GSTs) are a family of multifunctional enzymes involved in detoxification of reactive species produced during melanin synthesis and are important players in the cellular defence systems against oxidative stress, including the oxidative stress caused by UV radiation. Therefore, GSTs, either alone or in several combinations between them and with MC1R may play a role in protection against development of melanoma. METHODS: GSTM1 and GSTT1 have copy number polymorphisms represented by gene delections. Genotypes were established by quantitative RT-PCR. GSTP1 (Ile105Val and Ala114Val) polymorphisms were genotyped using TaqMan. MC1R was analysed by sequencing. RESULTS: We present a case-control study including 563 Spanish MM patients and 337 control subjects. We examined the effect of GSTs genotypes on melanoma risk in presence of MC1R gene variants, sun exposure and host-related phenotypes. Associations with melanoma and pigmentary characteristics such as hair, skin and eye colour will be discussed. CONCLUSION: These results will confirm the contribution of GSTs to genetic susceptibility to melanoma in Spain.

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