Journal article

Pigmentation-related genes and their implication in malignant melanoma susceptibility

Lara P Fernandez, Roger L Milne, Guillermo Pita, Uxua Floristan, Elena Sendagorta, Marta Feito, Jose A Aviles, Manuel Martin-Gonzalez, Pablo Lazaro, Javier Benitez, Gloria Ribas

Experimental Dermatology | WILEY | Published : 2009


Human pigmentation appears to be one of the main modulators of individual risk of developing malignant melanoma (MM). A large number of genes are known to be involved in rare pigmentary disorders and explain most of the variation in pigmentation phenotypes seen in human populations. This Spanish case-control study included 205 patients with melanoma and 245 control subjects. Thirty-one single nucleotide polymorphisms (SNPs) in genes that had been mainly associated with congenital pigmentation syndromes (ADTB3A, ATRN, CHS1, EDNRB, HPS, KIT, MGRN1, MITF, MLANA, MYO5A, MYO7A, OA1, OCA2, PAX3 and SOX10) were selected. We found that the variant allele of OCA2 R419Q (rs1800407) was associated with..

View full abstract


Awarded by Spanish 'Ministerio de Educacion y Ciencia'

Awarded by Fondo de Investigacion Sanitaria (FIS)

Funding Acknowledgements

This study was supported by grants from 'Fundacion Mutua Madrilena' and the Spanish 'Ministerio de Educacion y Ciencia' (SAF2007-65542-C02-01). LPF was funded by the Spanish Ministerio de Sanidad y Consumo under a grant from the Fondo de Investigacion Sanitaria (FIS) FI05/00918. We thank the staff at the Spanish National Genotyping Centre in Santiago de Compostela for their expert technical support. We also thank Mariano Casado, Angel Pizarro, Matias Mayor, Angeles de la Riva Grandal, the Madrid College of Lawyers and patients from the Gregorio Maranon, La Paz and Ramon y Cajal Hospitals.