Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.
Department of Biostatistics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Adv Exp Med Biol. 2021;1256:191-200. doi: 10.1007/978-3-030-66014-7_7.
Age-related macular degeneration (AMD) is a multifactorial neurodegenerative disease, which is a leading cause of vision loss among the elderly in the developed countries. As one of the most successful examples of genome-wide association study (GWAS), a large number of genetic studies have been conducted to explore the genetic basis for AMD and its progression, of which over 30 loci were identified and confirmed. In this chapter, we review the recent development and findings of GWAS for AMD risk and progression. Then, we present emerging methods and models for predicting AMD development or its progression using large-scale genetic data. Finally, we discuss a set of novel statistical and analytical methods that were recently developed to tackle the challenges such as analyzing bilateral correlated eye-level outcomes that are subject to censoring with high-dimensional genetic data. Future directions for analytical studies of AMD genetics are also proposed.
年龄相关性黄斑变性（AMD）是一种多因素神经退行性疾病，是发达国家老年人视力丧失的主要原因。作为全基因组关联研究（GWAS）最成功的范例之一，已经进行了大量的遗传研究来探索 AMD 及其进展的遗传基础，其中已确定并证实了 30 多个位点。在本章中，我们回顾了 AMD 风险和进展的 GWAS 的最新进展和发现。然后，我们提出了使用大规模遗传数据预测 AMD 发展或其进展的新兴方法和模型。最后，我们讨论了一组最近开发的新的统计和分析方法，用于解决分析具有高维遗传数据的双侧相关眼水平结局的问题，这些结局受到删失的影响。还提出了 AMD 遗传学分析的未来方向。
