Mesh : Receptor, Melanocortin, Type 1 / genetics Humans Skin Neoplasms / genetics Polymorphism, Genetic Skin Aging / physiology genetics Phenotype Skin Diseases / genetics

来  源:   DOI:10.23736/S2784-8671.24.07839-3

Abstract:
Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.
摘要:
黑皮质素-1受体(MC1R)及其变体在黑色素合成中起关键作用。然而,MC1R与DNA修复活性和炎症相关的非色素途径相关。这篇综述的目的是提供有关MC1R在皮肤中的作用的最新概述。具体来说,在总结了目前有关MC1R结构和多态性的知识之后,我们报告了有关MC1R之间相关性的数据,表型性状,皮肤老化,其他疾病和皮肤癌及其通过基因检测的风险评估。
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