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

Citation:

Dessinioti C, Sypsa V, Kypreou K, Dimisianos G, Kodela E, Nikolaou V, Antoniou C, Stratigos AJ. A case-control study of MC1R variants in Greek patients with basal cell carcinoma: increased risk independently of pigmentary characteristics. Exp Dermatol. 2015;24:476-8.

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.

Notes:

Dessinioti, ClioSypsa, VanaKypreou, KaterinaDimisianos, GerasimosKodela, ElisavetNikolaou, VasilikiAntoniou, ChristinaStratigos, Alexander JengLetterDenmark2015/03/27 06:00Exp Dermatol. 2015 Jun;24(6):476-8. doi: 10.1111/exd.12703. Epub 2015 Apr 16.