Digital quantification of human eye color highlights genetic association of three new loci.
Digital quantification of human eye color highlights genetic association of three new loci.
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DOI：
10.1371/journal.pgen.1000934
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发表时间：
2010-05-06
期刊：
影响因子：
4.5
通讯作者：
Kayser M
中科院分区：
文献类型：
--
作者：
Liu F;Wollstein A;Hysi PG;Ankra-Badu GA;Spector TD;Park D;Zhu G;Larsson M;Duffy DL;Montgomery GW;Mackey DA;Walsh S;Lao O;Hofman A;Rivadeneira F;Vingerling JR;Uitterlinden AG;Martin NG;Hammond CJ;Kayser M
先前的研究已经成功地确定了与人类虹膜（眼睛）颜色相关的几个基因的遗传变异；然而，他们都使用简化的分类特征信息。在这里，我们使用高分辨率数字全眼照片将连续眼睛颜色变化量化为色调和饱和度值，并对来自鹿特丹研究的5,951名荷兰欧洲人进行了全基因组关联研究。三个新的区域，1q42.3, 17q25.3和21q22.13，被突出显示符合全基因组统计显著关联的标准。后两个基因座在2261名英国人和1282名澳大利亚人中被复制。位于1q42.3的LYST基因和位于21q22.13的DSCR9基因是有希望的功能候选基因。鹿特丹研究中，一种预测定量眼睛颜色的模型解释了超过50%的性状差异。总的来说，我们的所有数据都表明，精细表型是寻找与人类复杂性状有关的基因的有用策略。我们从数千名荷兰欧洲人的高分辨率数码全眼照片中测量了人眼颜色、色调和饱和度值。这种极具成本效益、便携性和时间效率的定量方法揭示了人类眼睛颜色在更多维度上的变化，而不是之前研究的蓝-绿-棕色类别所代表的颜色。我们的工作代表了人类眼睛颜色定量的第一个全基因组研究。我们清楚地发现了3个新的基因座LYST， 17q25.3, TTC3/DSCR9，它们在多个维度上对自然和微妙的眼睛颜色变化做出了贡献，为更详细地了解人类眼睛颜色的遗传基础提供了新的线索。我们的定量预测模型解释了超过50%的眼睛颜色差异，代表了迄今为止在人类复杂性状和数量性状的基因组预测中取得的最高准确性，与未来的法医应用相关。
Previous studies have successfully identified genetic variants in several genes associated with human iris (eye) color; however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a genome-wide association study on 5,951 Dutch Europeans from the Rotterdam Study. Three new regions, 1q42.3, 17q25.3, and 21q22.13, were highlighted meeting the criterion for genome-wide statistically significant association. The latter two loci were replicated in 2,261 individuals from the UK and in 1,282 from Australia. The LYST gene at 1q42.3 and the DSCR9 gene at 21q22.13 serve as promising functional candidates. A model for predicting quantitative eye colors explained over 50% of trait variance in the Rotterdam Study. Over all our data exemplify that fine phenotyping is a useful strategy for finding genes involved in human complex traits. We measured human eye color to hue and saturation values from high-resolution, digital, full-eye photographs of several thousand Dutch Europeans. This quantitative approach, which is extremely cost-effective, portable, and time efficient, revealed that human eye color varies along more dimensions than the one represented by the blue-green-brown categories studied previously. Our work represents the first genome-wide study of quantitative human eye color. We clearly identified 3 new loci, LYST, 17q25.3, TTC3/DSCR9, in contributing to the natural and subtle eye color variation along multiple dimensions, providing new leads towards a more detailed understanding of the genetic basis of human eye color. Our quantitative prediction model explained over 50% of eye color variance, representing the highest accuracy achieved so far in genomic prediction of human complex and quantitative traits, with relevance for future forensic applications.
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