Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Dermatology Department, Hospital Alemán, Buenos Aires, Argentina.
Pigment Cell Melanoma Res. 2018 Jan;31(1):39-50. doi: 10.1111/pcmr.12646. Epub 2017 Oct 17.
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.
黑素皮质素 1 受体(MC1R)是一个高度多态性的基因。失活的 MC1R 变体(“R”)与红头发颜色表型和增加的黑色素瘤风险强烈相关。我们对 175 名健康个体的 MC1R 基因进行了测序,以评估 MC1R 对痣表型的影响。我们发现 MC1R 变体携带者的背部痣[p 值 =.016,经多重参数调整(adj. p 值)]和上肢痣更大(adj. p 值 =.007)。具体而言,我们发现“R”MC1R 变体与痣中的可见血管之间存在正相关关系[p 值 =.033,使用 FDR 方法对多重比较进行校正(校正 p 值)],痣中的点和球状体(校正 p 值)。 =.033),痣偏心性色素沉着增加(校正 p 值)。=.033),高度雀斑(adj. p 值)。=.019),以及与蓝色痣存在的关联趋势(校正 p 值)。=.120)。总之,MC1R 基因似乎影响痣表型。