Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
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DOI：
10.1086/319500
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发表时间：
2001-04-01
影响因子：
9.8
通讯作者：
Bavinck, NJB
中科院分区：
文献类型：
--
作者：
Bastiaens, MT;ter Huurne, JAC;Bavinck, NJB
黑素皮质素-1受体（MC1R）基因变异与白皙皮肤和红发有关，与皮肤恶性黑色素瘤无关。MC1R基因变异与非黑色素瘤皮肤癌的关系在很大程度上是未知的。本研究共纳入838名受试者：453名非黑色素瘤皮肤癌患者和385名非皮肤癌患者。采用单链构象多态性分析对人类MC1R基因的编码序列进行了检测，并对未知变异进行了测序。皮肤癌的风险依赖于不同的MC1R基因变异，使用暴露优势比估计。我们调查了携带MC1R变异等位基因的受试者发生非黑色素瘤皮肤癌的风险是否增加，如果是这样，这种增加的风险是否由白皙皮肤和红头发介导。共发现27个MC1R基因变异。携带一种、两种或三种MC1R基因变异的人数分别为379人（45.2%）、208人（24.8%）和7人（0.9%）。MC1R基因变异与白皙皮肤和红发之间存在很强的相关性，尤其是Arg151Cys和Arg160Trp (P
Melanocortin-1 receptor (MC1R) gene variants are associated with fair skin and red hair and, independently of these, with cutaneous malignant melanoma. The association of MC1R gene variants with nonmelanoma skin cancer is largely unknown. A total of 838 subjects were included in the present study: 453 patients with nonmelanoma skin cancer and 385 subjects with no skin cancer. The coding sequence of the human MC1R gene was tested using single-stranded conformation polymorphism analysis followed by sequencing of unknown variants. Risk of skin cancer dependent on the various MC1R gene variants was estimated using the exposure odds ratio. We investigated whether subjects with MC1R variant alleles were at increased risk of developing nonmelanoma skin cancer and, if so, whether this increased risk was mediated by fair skin and red hair. A total of 27 MC1R gene variants were found. The number of carriers of one, two, or three MC1R gene variants was 379 (45.2%), 208 (24.8%), and 7 (0.9%), respectively. A strong association between MC1R gene variants and fair skin and red hair was established, especially the variants Arg151Cys and Arg160Trp (P