Introduction Age-related macular degeneration (AMD) is a blinding condition for which there is currently no early-stage clinical biomarker. AMD is characterized by thinning of the outer retina and drusen formation leading to thickening of the Bruch’s membrane and RPE complex, but the timing between these two events, as well as the role of genetic variants in these processes, are unclear. Here, we jointly analyzed genomic, electronic health record, and optical coherence tomography (OCT) data across 44,823 individuals from the UK Biobank to characterize the epidemiological and genetic associations between retinal layer thicknesses and AMD.

中文翻译：

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感光层变薄是年龄相关性黄斑变性发展的早期生物标志物：来自英国生物银行光学相干断层扫描数据的流行病学和遗传证据

介绍年龄相关性黄斑变性 (AMD) 是一种致盲疾病，目前尚无早期临床生物标志物。AMD 的特征是外层视网膜变薄和玻璃膜疣形成导致布鲁赫膜和 RPE 复合物增厚，但这两个事件之间的时间以及遗传变异在这些过程中的作用尚不清楚。在这里，我们联合分析了来自英国生物银行的 44,823 名个体的基因组、电子健康记录和光学相干断层扫描 (OCT) 数据，以表征视网膜层厚度与 AMD 之间的流行病学和遗传关联。