Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms
Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms
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DOI：
10.1111/pcmr.12435
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发表时间：
2016-03-01
影响因子：
4.3
通讯作者：
Parra, Esteban J.
中科院分区：
文献类型：
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作者：
Edwards, Melissa;Cha, David;Parra, Esteban J.
在这项研究中，我们提出了一种新的定量方法来衡量虹膜颜色的基础上，高分辨率的照片。我们应用这种方法来分析虹膜颜色的变化在一个样本的个人东亚，欧洲和南亚血统。我们发现，测量虹膜颜色使用CIELAB颜色空间的坐标揭示了显着的变化量，而不是使用传统的分类，如“棕色”，“蓝色”或“绿色”。我们在每个人群中测试了选定的一组多态性与虹膜颜色的关联。在欧洲样本中，6个标记与虹膜颜色有显著关联，南亚样本中有3个，东亚样本中有2个。我们还观察到，标志物HERC2 rs12913832，这是欧洲人群中“蓝色”与“棕色”虹膜颜色的主要决定因素，也与欧洲样本中的中央异色症显著相关。
In this study, we present a new quantitative method to measure iris colour based on high-resolution photographs. We applied this method to analyse iris colour variation in a sample of individuals of East Asian, European and South Asian ancestry. We show that measuring iris colour using the coordinates of the CIELAB colour space uncovers a significant amount of variation that is not captured using conventional categorical classifications, such as 'brown', 'blue' or 'green'. We tested the association of a selected panel of polymorphisms with iris colour in each population group. Six markers showed significant associations with iris colour in the European sample, three in the South Asian sample and two in the East Asian sample. We also observed that the marker HERC2 rs12913832, which is the main determinant of 'blue' versus 'brown' iris colour in European populations, is also significantly associated with central heterochromia in the European sample.