Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

Bibliographic Details
Title: Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.
Authors: Vallone, María Gabriela, Tell‐Marti, Gemma, Potrony, Miriam, Rebollo‐Morell, Aida, Badenas, Celia, Puig‐Butille, Joan Anton, Gimenez‐Xavier, Pol, Carrera, Cristina, Malvehy, Josep, Puig, Susana
Source: Pigment Cell & Melanoma Research; Jan2018, Vol. 31 Issue 1, p39-50, 12p
Subject Terms: MELANOCORTIN receptors, NEVUS, GENETIC polymorphisms, HYPERPIGMENTATION, PHENOTYPES
Abstract: The melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of- function MC1R variants ("R") have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R 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" MC1R 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 MC1R gene appears to influence the nevus phenotype. [ABSTRACT FROM AUTHOR]
Copyright of Pigment Cell & Melanoma Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Complementary Index
Full text is not displayed to guests.
More Details
ISSN:17551471
DOI:10.1111/pcmr.12646
Published in:Pigment Cell & Melanoma Research
Language:English