Metzelaar-Blok J A, ter Huurne J A, Hurks H M, Keunen J E, Jager M J, Gruis N A
Department of Ophthalmology, Leiden University Medical Center, The Netherlands.
Invest Ophthalmol Vis Sci. 2001 Aug;42(9):1951-4.
Allelic variations of the melanocortin-1 receptor (MC1R) gene have been linked to red hair and sun-sensitive skin types and may play a role in the susceptibility to develop cutaneous malignant melanoma (CMM). To define the role of MC1R gene in uveal melanoma, a case control study was performed, in which the presence of MC1R gene variations in uveal melanoma patients was compared with that of healthy controls.
MC1R gene variants were analyzed in 162 uveal melanoma patients and 255 healthy controls. After genomic DNA was isolated from venous blood, the MC1R gene was amplified by polymerase chain reaction (PCR) and examined for the presence of variants by single-strand conformation polymorphism (SSCP) analysis. Participants were asked to complete a questionnaire regarding skin type, eye color, and hair color.
No disparity was found between the distribution of the MC1R gene variants in both groups. Furthermore, no associations between MC1R genotype and pigment phenotype were found. In contrast to CMM, uveal melanoma patients did not show specific MC1R gene variants. Compared with controls, most uveal melanoma patients had blue eyes (65%, P = 0.060) and skin type III (56%); however, in the uveal melanoma group the presence of dark blond hair was significantly elevated (46%, P = 0.030). These findings are in contrast with studies on CMM, where most patients have skin type II and red/fair hair.
These data suggest that MC1R variants do not play a role in the susceptibility to develop uveal melanoma. Furthermore, most uveal melanoma patients share phenotypic characteristics that differ from findings in CMM patients.
黑皮质素-1受体（MC1R）基因的等位基因变异与红发及对阳光敏感的皮肤类型有关，可能在皮肤恶性黑色素瘤（CMM）的易感性中起作用。为了确定MC1R基因在葡萄膜黑色素瘤中的作用，进行了一项病例对照研究，比较了葡萄膜黑色素瘤患者与健康对照者中MC1R基因变异的存在情况。
对162例葡萄膜黑色素瘤患者和255例健康对照者的MC1R基因变异进行分析。从静脉血中分离基因组DNA后，通过聚合酶链反应（PCR）扩增MC1R基因，并通过单链构象多态性（SSCP）分析检测变异的存在情况。参与者被要求填写一份关于皮肤类型、眼睛颜色和头发颜色的问卷。
两组中MC1R基因变异的分布没有差异。此外，未发现MC1R基因型与色素表型之间存在关联。与CMM不同，葡萄膜黑色素瘤患者未显示特定的MC1R基因变异。与对照组相比，大多数葡萄膜黑色素瘤患者有蓝色眼睛（65%，P = 0.060）和III型皮肤（56%）；然而，在葡萄膜黑色素瘤组中，深金色头发的比例显著升高（46%，P = 0.030）。这些发现与关于CMM的研究结果相反，在CMM研究中，大多数患者有II型皮肤和红/浅色头发。
这些数据表明MC1R变异在葡萄膜黑色素瘤的易感性中不起作用。此外，大多数葡萄膜黑色素瘤患者具有与CMM患者不同的表型特征。
