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

Summary

The Melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair colour 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 = 0.016, adjusted for multiple parameters (adj. p-value)) and on the upper limbs (adj. p-value = 0.007). Specifically, we identified a positive association between the "R'' MC1R variants and visible vessels in nevi (p-value = 0.033, corrected using the FDR method for multiple comparisons (corrected p-value)), dots and globules in nevi (corrected p-value = 0.033), nevi with eccentric hyperpigmentation (corrected p-value = 0.033), a high degree of freckling (adj. p-value = 0.019) and an associative trend with presence of blue nevi (corrected p-value = 0.120). In conclusion, the MC1R gene appears to influence the nevus phenotype.

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