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

作者：Dessinioti Clio; Sypsa Vana; Kypreou Katerina; Dimisianos Gerasimos; Kodela Elisavet; Nikolaou Vasiliki; Antoniou Christina; Stratigos Alexander J

来源：Experimental Dermatology, 2015, 24(6): 476-478.

DOI：10.1111/exd.12703

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

• 出版日期2015-6