A case-control study of MC1R variants in Greek patients with basal cell carcinoma: increased risk independently of pigmentary characteristics.

Abstract

Melanocortin 1 receptor (MC1R) gene variants are a major contributor to pigmentation characteristics and the modulation of sporadic basal cell carcinoma (BCC) risk. This is a hospital-based, case-control study to investigate the association of MC1R variants and pigmentary characteristics with the risk of BCC development in a Southern European population in Greece. In total, 141 patients with BCC and 166 controls were studied. Increased BCC risk was found for the presence of 2 or more MC1R variants (OR:3.07, 95% CI:1.13-8.34), or 2 or more variants of which at least 1 was major function (OR:7.15, 95% CI:1.37-5.52), after adjustment for the 'red hair colour' (RHC) phenotype. Increased BCC risk persisted in the presence of 2 or more MC1R variants (OR:4.15, 95% CI:1.35-12.72), after adjustment for potential confounding factors including skin color (P:0.237) and atypical nevi (OR:9.57, 95% CI:2.19-41.81, P:0.003). MC1R genotype is a risk factor for the development of BCC in Greek patients independently of pigmentary characteristics, and the combination of MC1R variants may modulate this risk.

• Authors: Clio Dessinioti, Vana Sypsa, Katerina Kypreou, Gerasimos Dimisianos, Elisavet Kodela, Vasiliki Nikolaou, Christina Antoniou, Alexander J Stratigos
• Journal: Experimental dermatology (Exp Dermatol) Vol. 24 Issue 6 Pg. 476-8 (Jun 2015) ISSN: 1600-0625 [Electronic] Denmark
• PMID: 25809071 (Publication Type: Letter)
• Copyright: © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Chemical References

• Receptor, Melanocortin, Type 1

Topics

• Adult
• Aged
• Carcinoma, Basal Cell (ethnology, genetics)
• Case-Control Studies
• Female
• Genetic Predisposition to Disease (ethnology, genetics)
• Genetic Variation (genetics)
• Genotype
• Greece
• Hair Color (genetics)
• Humans
• Male
• Middle Aged
• Phenotype
• Pigmentation (genetics, physiology)
• Receptor, Melanocortin, Type 1 (genetics)
• Risk Factors
• Skin Neoplasms (ethnology, genetics)