低风险南欧人群中的黑皮质素受体-1基因多态性与皮肤黑素瘤患病风险率

• 作 者: Stratigos A.J. Dimisianos G. Nikolaou V. 李翠华
• 机 构: Department of Dermatology University of Athens Andreas Sygros Hospital 5 Dragoumi Street,Athens 106
• 出 处: 世界核心医学期刊文摘(皮肤病学分册)
• 发表日期: 2006年11期
• 关键词: 黑素瘤 患病风险 黑皮质素受体 基因多态性 变异体 宿主因素 携带者 皮质素 发病年龄 风险率

Individuals with melanocortin 1 receptor (MC1R) gene variants have been shown to carry an increased risk for the development of melanoma. In this study, we investigated the relationship of MC1R gene variants and the risk of melanoma in 123 melanoma patients and 155 control subjects from Greece. The entire MC1R gene was sequenced for polymorphisms and the results were correlated with host factors and pigmentary characteristics. MC1R polymorphisms were present in 59.4%of melanoma patients compared to 37.5%of controls, yielding an odds ratio (OR) of 2.43 (95%confidence interval (CI)=1.50-3.96, P< 0.001) for melanoma among MC1R carriers. The risk of melanoma was enhanced in individuals carrying multiple variant alleles (OR=6.97; 95%CI=1.86-26.12, P=0.004). Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk. In stratified analysis, the risk of melanoma among MC1R carriers was not influenced by skin phototype, skin color, or hair color. No association was found between MC1R genotype and the age of onset of melanoma, the tumor location, or the tumor thickness. In conclusion, MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease.

Individuals with melanocortin 1 receptor (MC1R) gene variants have been shown to carry an increased risk for the development of melanoma. In this study, we investigated the relationship of MC1R gene variants and the risk of melanoma in 123 melanoma patients and 155 control subjects from Greece. The entire MC1R gene was sequenced for polymorphisms and the results were associated with host factors and pigmentary characteristics. MC1R polymorphisms were present in 59.4% of melanoma patients compared to 37.5% of controls, yielding an odds ratio (OR) of 2.43 (95 % risk interval (CI) = 1.50-3.96, P <0.001) for melanoma among MC1R carriers. The risk of melanoma was enhanced in individuals carrying multiple variant alleles (OR = 6.97; 95% CI = 1.86-26.12, P = 0.004) Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk. In stratified analysis, the risk of melanoma among MC1R carriers was not influenced by skin phototype, skin color, or hair color. No a In conclusion, MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease.