European ancestry and polymorphisms in DNA repair genes modify the risk of melanoma: A case-control study in a high UV index region in Brazil
European ancestry and polymorphisms in DNA repair genes modify the risk of melanoma: A case-control study in a high UV index region in Brazil
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DOI：
10.1016/j.jdermsci.2011.06.003
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发表时间：
2011-10-01
影响因子：
4.6
通讯作者：
Eluf-Neto, Jose
中科院分区：
文献类型：
--
作者：
Goncalves, Fernanda T.;Francisco, Guilherme;Eluf-Neto, Jose
背景：紫外线辐射是皮肤黑色素瘤发生的主要环境因素。除了阳光照射和纬度的影响外，一些宿主特征，如皮肤光型、头发和眼睛的颜色也是黑色素瘤的危险因素。DNA修复基因的多态性可能是易感基因的候选基因，主要分布在高辐射地区。目的：评价宿主特性的作用。方法：我们在巴西进行了一项以医院为基础的病例对照研究，以评估宿主因素和DNA修复多态性对黑色素瘤风险的贡献。共有412例患者（202与黑色素瘤和210对照）进行了分析，黑色素瘤的风险，以及为11个多态性的DNA修复genes.Results：我们发现一个协会的主机特性与黑色素瘤的发展，如眼睛和头发的颜色，皮肤白皙，色素性病变的历史删除，晒伤在儿童和青少年，也欧洲血统。关于DNA修复基因多态性，我们发现XPG 1104 His/His基因型（OR 0.32; 95% CI 0.13-0.75）具有保护作用，而XPC基因中的三种多态性（PAT+; IV-6A和939 Gln）（代表XPC的单倍型）的风险增加。黑色素瘤的风险是更高的个人携带完整的XPC单倍型比每个单独的多态性（OR 3.64; 95%CI 1.77-7.48）。结论：我们的数据表明，主机因素欧洲血统和XPC多态性有助于黑色素瘤的风险在一个地区暴露于高太阳辐射。(C)2011年日本皮肤病学调查学会。由Elsevier爱尔兰有限公司出版。保留所有权利。
Background: UV radiation is the major environmental factor related to development of cutaneous melanoma. Besides sun exposure and the influence of latitude, some host characteristics such as skin phototype and hair and eye color are also risk factors for melanoma. Polymorphisms in DNA repair genes could be good candidates for susceptibility genes, mainly in geographical regions exposed to high solar radiation.Objective: Evaluate the role of host characteristic.; and DNA repair polymorphism in melanoma risk in Brazil.Methods: We carried out a hospital-based case-control study in Brazil to evaluate the contribution of host factors and polymorphisms in DNA repair to melanoma risk. A total of 412 patients (202 with melanoma and 210 controls) were analyzed regarding host characteristics for melanoma risk as well as for 11 polymorphisms in DNA repair genes.Results: We found an association of host characteristics with melanoma development, such as eye and hair color, fair skin, history of pigmented lesions removed, sunburns in childhood and adolescence, and also European ancestry. Regarding DNA repair gene polymorphisms, we found protection for the XPG 1104 His/His genotype (OR 0.32; 95% CI 0.13-0.75), and increased risk for three polymorphisms in the XPC gene (PAT+; IV-6A and 939Gln), which represent a haplotype for XPC. Melanoma risk was higher in individuals carrying the complete XPC haplotype than each individual polymorphism (OR 3.64; 95% CI 1.77-7.48).Conclusions: Our data indicate that the host factors European ancestry and XPC polymorphisms contributed to melanoma risk in a region exposed to high sun radiation. (C) 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.