Lona-Durazo Frida, Thakur Rohit, Pairo-Castineira Erola, Funderburk Karen, Zhang Tongwu, Kovacs Michael A, Choi Jiyeon, Jackson Ian J, Brown Kevin M, Parra Esteban J
Department of Anthropology, University of Toronto at Mississauga, Mississauga, ON, Canada.
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
iScience. 2022 May 30;25(6):104485. doi: 10.1016/j.isci.2022.104485. eCollection 2022 Jun 17.
Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the locus have the largest effect on eye color in these populations, although other genomic regions also influence eye color. We performed genome-wide association studies of eye color in a Canadian cohort of European ancestry (N = 5,641) and investigated candidate causal variants. We uncovered several candidate causal signals in the region, whereas other loci likely harbor a single causal signal. We observed colocalization of eye color signals with the expression or methylation profiles of cultured primary melanocytes. Genetic correlations of eye and hair color suggest high genome-wide pleiotropy, but locus-level differences in the genetic architecture of both traits. Overall, we provide a better picture of the polymorphisms underpinning eye color variation, which may be a consequence of specific molecular processes in the iris melanocytes.
在具有欧洲血统的人群中，眼睛颜色高度可变，虹膜中黑色素的含量从低到高不等。尽管其他基因组区域也会影响眼睛颜色，但该基因座的多态性对这些人群的眼睛颜色影响最大。我们在一个加拿大欧洲血统队列（N = 5641）中进行了眼睛颜色的全基因组关联研究，并研究了候选因果变异。我们在该区域发现了几个候选因果信号，而其他基因座可能只含有一个因果信号。我们观察到眼睛颜色信号与培养的原代黑素细胞的表达或甲基化谱共定位。眼睛和头发颜色的遗传相关性表明全基因组存在高度多效性，但这两种性状的遗传结构在基因座水平上存在差异。总体而言，我们对支撑眼睛颜色变异的多态性有了更清晰的认识，这可能是虹膜黑素细胞中特定分子过程的结果。
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