TY - JOUR
T1 - Sporadic melanoma in South-Eastern Italy
T2 - The impact of melanocortin 1 receptor (MC1R) polymorphism analysis in low-risk people and report of three novel variants
AU - Guida, S.
AU - Bartolomeo, N.
AU - Zanna, P. T.
AU - Grieco, C.
AU - Maida, I.
AU - De Summa, S.
AU - Tommasi, S.
AU - Guida, M.
AU - Azzariti, A.
AU - Foti, C.
AU - Filotico, R.
AU - Guida, G.
PY - 2015/3/4
Y1 - 2015/3/4
N2 - 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.
AB - 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.
KW - MC1R polymorphisms
KW - Melanoma risk factors
KW - South-Eastern Italy
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U2 - 10.1007/s00403-015-1552-4
DO - 10.1007/s00403-015-1552-4
M3 - Article
C2 - 25736238
AN - SCOPUS:84937970671
VL - 307
SP - 495
EP - 503
JO - Archives of Dermatological Research
JF - Archives of Dermatological Research
SN - 0340-3696
IS - 6
ER -