Melanocortin Receptor-1 Gene Polymorphisms and the Risk of Cutaneous Melanoma in a Low-Risk Southern European Population

Stratigos, Alexander J.
Dimisianos, Gerasimos
Nikolaou, Vasiliki
Poulou, Mirto
Sypsa, Vana
Stefanaki, Irene
Papadopoulos, Othon
Polydorou, Dorothea
Plaka, Michaela
Christofidou, Eleftheria
Gogas, Helen
Tsoutsos, Dimosthenis
Kastana, Ourania
Antoniou, Christina
Hatzakis, Angelos
Kanavakis, Emmanouil
Katsambas, Andreas D.

Open link

Publication date

August 2006

DOI

10.1038/sj.jid.5700292

Publisher

The Society for Investigative Dermatology, Inc.

Abstract

Individuals with melanocortin 1 receptor (MC1R) gene variants have been shown to carry an increased risk for the development of melanoma. In this study, we investigated the relationship of MC1R gene variants and the risk of melanoma in 123 melanoma patients and 155 control subjects from Greece. The entire MC1R gene was sequenced for polymorphisms and the results were correlated with host factors and pigmentary characteristics. MC1R polymorphisms were present in 59.4% of melanoma patients compared to 37.5% of controls, yielding an odds ratio (OR) of 2.43 (95% confidence interval (CI)=1.50–3.96, P<0.001) for melanoma among MC1R carriers. The risk of melanoma was enhanced in individuals carrying multiple variant alleles (OR=6.97; 95% CI=1.86–2...