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Sporadic melanoma in South-Eastern Italy: the impact of melanocortin 1 receptor (MC1R) polymorphism analysis in low-risk people and report of three novel variants

Archives of Dermatological Research volume 307, pages 495–503 (2015)Cite this article

Abstract

Environmental and genetic risk factors are involved in the development of melanoma. The role of the melanocortin 1 receptor (MC1R) gene has been investigated and differences according to geographic areas have been described. To evaluate the role of some clinical and genetic risk factors in melanoma development, we performed a case–control study involving 101 melanoma patients and 103 controls coming from South-Eastern Italy (Puglia), after achieving informed consent. We confirmed the role of known clinical risk factors for melanoma. Furthermore, 42 MC1R polymorphisms were observed. Three of these variants (L26V, H232L, D294Y) were not previously reported in the literature. Their predicted impact on receptor function was evaluated using bioinformatic tools. We report an overall frequency of MC1R variants in our population higher than in Northern or Central Italy. The most common polymorphism found was V60L, that has been recently reported to spread among South Mediterranean population. This variant influenced phenotypic characteristics of our population while it did not impinge on melanoma risk. An increased risk of melanoma was associated with two or more MC1R variants, when at least one was RHC, compared to people carrying the MC1R consensus sequence or a single MC1R polymorphism. Interestingly, we observed an increased risk of melanoma in subjects with darker skin and lower nevus count, usually considered at low risk, when carrying MC1R polymorphisms.

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Acknowledgments

This work was sponsored by grants from “Fondazione Cassa Di Risparmio di Puglia”.

Conflict of interest

None.

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Affiliations

  1. Dermatology Unit, Department of Biomedical Science and Human Oncology, University of Bari ‘A. Moro’, Bari, Italy

    S. Guida & C. Foti

  2. Section of Medical Statistics, Department of Biomedical Science and Human Oncology, University of Bari ‘A. Moro’, Bari, Italy

    N. Bartolomeo

  3. Department of Basic Medical Sciences, Neurosciences and Organs of Senses, School of Medicine, University of Bari “Aldo Moro”, P.zza G. Cesare, Policlinico, 70124, Bari, Italy

    P. T. Zanna, C. Grieco, I. Maida & G. Guida

  4. National Cancer Research Centre, Istituto Tumori ‘Giovanni Paolo II’, Bari, Italy

    S. De Summa, S. Tommasi, M. Guida & A. Azzariti

  5. Dermatology Unit Brindisi, Hospital “A.Perrino”, Brindisi, Italy

    R. Filotico

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  1. S. Guida
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  2. N. Bartolomeo
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Correspondence to G. Guida.

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Guida, S., Bartolomeo, N., Zanna, P.T. et al. Sporadic melanoma in South-Eastern Italy: the impact of melanocortin 1 receptor (MC1R) polymorphism analysis in low-risk people and report of three novel variants. Arch Dermatol Res 307, 495–503 (2015). https://doi.org/10.1007/s00403-015-1552-4

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  • DOI: https://doi.org/10.1007/s00403-015-1552-4

Keywords

  • MC1R polymorphisms
  • Melanoma risk factors
  • South-Eastern Italy