Communicated by Jacques S. Beckmann
SLC45A2: a novel malignant melanoma-associated gene†
Article first published online: 18 JUN 2008
© 2008 Wiley-Liss, Inc.
Special Issue: Focus on Array-CGH and Clinical Diagnostics
Volume 29, Issue 9, pages 1161–1167, September 2008
How to Cite
Fernandez, L.P., Milne, R.L., Pita, G., Avilés, J.A., Lázaro, P., Benítez, J. and Ribas, G. (2008), SLC45A2: a novel malignant melanoma-associated gene. Hum. Mutat., 29: 1161–1167. doi: 10.1002/humu.20804
- Issue published online: 27 AUG 2008
- Article first published online: 18 JUN 2008
- Manuscript Accepted: 26 MAR 2008
- Manuscript Received: 23 JAN 2008
- “Fundación Mútua Madrileña”
- Spanish “Ministerio de Educacion y Ciencia”. Grant Number: SAF2007-65542-C02-01
- Spanish Ministerio de Sanidad y Consumo, Fondo de Investigación Sanitaria (FIS). Grant Number: FI05/00918
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 that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0.41; 95% CI, 0.24–0.70; P=0.008 after adjustment for multiple testing). This association was validated by the consistent link observed with dark hair, dark skin, dark eye color, and the presence of solar lentigins and childhood sunburns. This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population. Hum Mutat 0,1–7, 2008. © 2008 Wiley-Liss, Inc.