Journal article

SLC45A2: A novel malignant melanoma-associated gene

LP Fernandez, RL Milne, G Pita, JA Aviles, P Lazaro, J Benitez, G Ribas

Human Mutation | WILEY | Published : 2008


Human pigmentation appears to be one of the strongest risk factors for malignant melanoma (MM). In humans, there is a long list of genes known to be involved in rare pigmentary disorders such as albinism. These genes explain most of the variation in pigmentation phenotypes seen in human populations, and they do this by regulating the level of synthesis, chemical composition, packaging, and distribution of melanin. This Spanish case-control study included 131 consecutive melanoma patients and 245 control subjects frequency-matched for sex and age. A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped. We found ..

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Awarded by Fondo de Investigacion Sanitaria (FIS)

Funding Acknowledgements

L.P.E was funded by the Spanish Ministerio de Sanidad y Consumo under a grant from the Fondo de Investigacion Sanitaria (FIS) F105/00918. We thank Emilio Gonzalez and Rosario Alonso for their expert technical Support. We also thank the Madrid College of Lawyers and the Gregorio Maranon Hospital participants.