全球眼睛黑色素瘤的发病率和与色素相关的风险因素的相关性
Mike Wu1,2,3, Serdar Yavuzyigitoglu1,3, Erwin Brosens2,3
1Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Investigative ophthalmology & visual science
|October 30, 2023
概括
眼睛黑色素瘤 (OM) 的发病率在欧洲祖先人口中最高,并且随着度的增加而下降. 与颜色相关的因素,包括虹膜颜色和特定的SNP如rs12913832,与OM风险有关.
科学领域:
- 眼科医生 眼科 眼科
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 眼睛黑色素瘤 (OM) 发病率数据,特别是眼膜黑色素瘤 (UM) 和结膜黑色素瘤的数据已经过时了.
- 最近的研究确定了明亮的虹膜颜色和特定的单核酸多态 (SNP) 作为阴膜黑色素瘤风险因素.
- 两个SNP (rs129138329和rs12203592) 是已知的UM风险因素,是IrisPlex小组的一部分.
研究的目的:
- 收集和分析全球眼睛黑色素瘤 (OM) 发病率数据.
- 调查OM发生率和虹膜颜色之间的相关性.
- 探索OM发生率与IrisPlexSNP以及已知带膜黑色素瘤 (UM) 风险SNP之间的关联.
主要方法:
- 从五大洲癌症发病率数据库中提取了OM病例 (1988-2012).
- 根据年龄标准化的发病率和使用结点回归和年龄周期队列建模分析的趋势.
- 从现有文献中收集了虹膜颜色的特定国家频率和相关的SNP (IrisPlex,UM-risk).
主要成果:
- 北欧/西欧和大洋洲的OM发病率最高 (≥8.0/百万人/年),北欧/东欧/南欧的发病率中等 (2.0-7.9),南美洲,亚洲和非洲的发病率最低 (<2.0).
- 在欧洲观察到一个显著的北向南的OM发病率下降梯度,与度相关 (r=0.77,P≤0.001).
- SNP rs12913832与OM发生率 (r=0.83,P≤0.001) 和虹膜颜色变化 (蓝色,绿色,棕色) 有着强烈的相关性.
结论:
- 眼睛黑色素瘤 (OM) 的发病率在欧洲血统的人群中最高,在亚洲和非洲血统的人群中最低.
- 在大多数国家,OM发病率趋势保持稳定.
- 观察到的OM发生率,虹膜颜色和rs12913832之间的空间相关性支持着色素在OM发育中的作用.
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