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Melanocortin 1 receptor ( MC 1R ) polymorphisms’ influence on size and dermoscopic features of nevi
Author(s) -
Vallone María Gabriela,
TellMarti Gemma,
Potrony Miriam,
RebolloMorell Aida,
Badenas Celia,
PuigButille Joan Anton,
GimenezXavier Pol,
Carrera Cristina,
Malvehy Josep,
Puig Susana
Publication year - 2018
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12646
Subject(s) - melanocortin 1 receptor , hyperpigmentation , melanocortin , phenotype , melanoma , value (mathematics) , nevus , gene , dermatology , medicine , biology , receptor , genetics , machine learning , computer science
Summary The melanocortin 1 receptor ( MC 1R ) is a highly polymorphic gene. The loss‐of‐function MC 1R variants (“R”) have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC 1R gene in 175 healthy individuals to assess the influence of MC 1R on nevus phenotype. We identified that MC 1R variant carriers had larger nevi both on the back [ p ‐value = .016, adjusted for multiple parameters (adj. p ‐value)] and on the upper limbs (adj. p ‐value = .007). Specifically, we identified a positive association between the “R” MC 1R variants and visible vessels in nevi [ p ‐value = .033, corrected using the FDR method for multiple comparisons (corrected p ‐value)], dots and globules in nevi (corrected p ‐value = .033), nevi with eccentric hyperpigmentation (corrected p ‐value = .033), a high degree of freckling (adj. p ‐value = .019), and an associative trend with presence of blue nevi (corrected p ‐value = .120). In conclusion, the MC 1R gene appears to influence the nevus phenotype.