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首页> 外文期刊>Journal of dermatological science >Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.
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Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

机译：在一大批法国受试者中评估酪氨酸酶变体和皮肤癌风险。

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BACKGROUND: Tyrosinase (TYR) is a key pigmentation gene that is highly polymorphic and responsible for the most common form of autosomal recessive albinism, OCA1. OBJECTIVE: To assess the role of frequent and rare TYR variants in predisposition to skin cancer (SK) in the French population. METHODS: We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls. RESULTS: The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16). In addition, 19 rare TYR variants, mainly albinism mutations, were identified in 15 patients and 8 controls. Among these, 3 clearly deleterious mutations (1 non-sense and 2 affecting mRNA splicing) were identified in 3 patients, one of which was homozygous. CONCLUSION: Our data confirmed the association of TYR p.R402Q with SK risk in the French population, and support that rare deleterious TYR variants may also play a role in multi-factorial genetic predisposition to SK. These results should be confirmed by replications studies.
机译：背景：酪氨酸酶（TYR）是高度多态的关键色素沉着基因，负责常染色体隐性白化病OCA1的最常见形式。目的：评估法国人群中常见的和罕见的TYR变体在皮肤癌（SK）易感性中的作用。方法：我们对1273例{1047皮肤黑素瘤（CM）和226例基底细胞癌（BCC）}和925例对照的TYR变异型（p.R402Q）进行了基因分型，并对287例疑似TYR的TYR的完整编码区进行了测序。对SK的遗传易感性（家族性和/或多种SK和/或40岁之前发作）和187个对照。结果：纯合p.R402Q变异与SK风险显着相关（P值= 0.008; OR = 1.57），并且主要与多CM风险（P值= 0.021; OR = 2.50）和家族性CM风险（P值）相关。 = 0.022; OR = 2.16）。此外，在15位患者和8位对照中鉴定出19种罕见的TYR变体，主要是白化病突变。其中，在3例患者中鉴定出3个明显有害的突变（1个无意义和2个影响mRNA剪接的突变），其中之一是纯合的。结论：我们的数据证实了法国人群中TYR p.R402Q与SK风险的相关性，并支持罕见的有害TYR变异体也可能在SK的多因素遗传易感性中起作用。这些结果应通过重复研究加以证实。

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