Lauwen Susette, de Jong Eiko K, Lefeber Dirk J, den Hollander Al
Department of Ophthalmology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands 3Translational Metabolic Laboratory, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809.
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes. We observe that genomic analyses were mainly successful in AMD research (almost half of the genomic heritability has been explained), whereas large parts of disease variability or risk remain unsolved in most of the other diseases. Other omics studies like transcriptomics, proteomics, and metabolomics provided additional candidate proteins and pathways for several eye diseases, although sample sizes in these studies were often very small and replication is lacking. In order to translate omics results into clinical biomarkers, larger sample sizes and validation across different cohorts would be essential. In conclusion, omics-based studies are increasing in ophthalmology, and further application to the clinic might develop in the years to come. Integration of genomics with other type of omics data has the potential to improve the accuracy of predictive tests. Moreover, in the future, omics may lead to stratification of patients into subgroups based on molecular profiles, enabling the development of personalized treatments.
“组学”是指对生物系统中的基因、蛋白质或代谢物进行高通量分析，并且越来越多地用于眼科研究。这些基于系统的方法能够揭示与疾病相关的过程，对于生物标志物的发现具有重要价值。此外，可以根据组学结果确定潜在的治疗靶点，并设计针对性的后续实验，以深入了解疾病的分子机制并测试新的疗法。在此，我们综述了组学技术在眼部疾病中的应用，重点关注年龄相关性黄斑变性（AMD）、糖尿病视网膜病变（DR）、视网膜脱离（RD）、近视、青光眼、富克斯角膜营养不良（FCD）、白内障、圆锥角膜和干眼症。我们发现，基因组分析在AMD研究中主要取得了成功（几乎一半的基因组遗传度已得到解释），而在大多数其他疾病中，大部分疾病变异性或风险仍未得到解决。其他组学研究，如转录组学、蛋白质组学和代谢组学，为几种眼部疾病提供了额外的候选蛋白质和途径，尽管这些研究中的样本量通常非常小且缺乏重复性。为了将组学结果转化为临床生物标志物，更大的样本量和跨不同队列的验证至关重要。总之，基于组学的研究在眼科领域日益增多，未来几年可能会进一步应用于临床。将基因组学与其他类型的组学数据整合有提高预测性检测准确性的潜力。此外，未来组学可能会根据分子特征将患者分层为亚组，从而推动个性化治疗的发展。
