Department of Medical Genetics, University of Alberta, Edmonton, Canada.
Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):13-24. doi: 10.1111/ceo.12152. Epub 2013 Jul 29.
Anterior segment dysgenesis refers to a spectrum of disorders affecting structures in the anterior segment of the eye including the iris, cornea and trabecular meshwork. Approximately 50% of patients with anterior segment dysgenesis develop glaucoma. Traditional genetic methods using linkage analysis and family-based studies have identified numerous disease-causing genes such as PAX6, FOXC1 and PITX2. Despite these advances, phenotypic and genotypic heterogeneity pose continuing challenges to understand the mechanisms underlying the complexity of anterior segment dysgenesis disorders. Genomic methods, such as genome-wide association studies, are potentially an effective tool to understand anterior segment dysgenesis and the individual susceptibility to the development of glaucoma. In this review, we provide the rationale, as well as the challenges, to utilizing genomic methods to examine anterior segment dysgenesis disorders.
前段发育不良是指一系列影响眼睛前段结构的疾病，包括虹膜、角膜和小梁网。大约 50%的前段发育不良患者会发展为青光眼。传统的遗传方法，如连锁分析和基于家族的研究，已经确定了许多致病基因，如 PAX6、FOXC1 和 PITX2。尽管取得了这些进展，但表型和基因型的异质性仍然是理解前段发育不良疾病复杂机制的挑战。基因组方法，如全基因组关联研究，可能是理解前段发育不良和个体对青光眼发展易感性的有效工具。在这篇综述中，我们提供了利用基因组方法来研究前段发育不良疾病的原理和挑战。
