圆锥角膜遗传学研究进展。

Update on the genetics of keratoconus.

机构信息

Cornea Genetic Eye Institute, Department of Surgery and Board of the Governors Regenerative Medicine Institute, Beverly Hills, Cedars-Sinai, Los Angeles, CA, United States.

出版信息

Exp Eye Res. 2021 Jan;202:108398. doi: 10.1016/j.exer.2020.108398. Epub 2020 Dec 13.

DOI:10.1016/j.exer.2020.108398

PMID:33316263

Abstract

In the past few years we have seen a great acceleration of discoveries in the field of keratoconus including new treatments, diagnostic tools, genomic and molecular determinants of disease risk. Recent genome-wide association studies (GWAS) of keratoconus cases and population wide studies of variation in central corneal thickness and in corneal biomechanical properties confirmed already identified genes and found many new susceptibility variants and biological pathways. Recent findings in genetic determinants of familial keratoconus revealed functionally important variants and established first mouse model of keratoconus. Latest transcriptomic and expression studies started assessing novel non-coding RNA targets in addition to identifying tissue specific effects of coding genes. First genomic insights into better prediction of treatment outcomes are bringing the advent of genomic medicine into keratoconus clinical practice.

摘要

在过去的几年中，我们在圆锥角膜领域见证了许多发现的飞速发展，包括新的治疗方法、诊断工具、疾病风险的基因组和分子决定因素。最近对圆锥角膜病例的全基因组关联研究（GWAS）以及对中央角膜厚度和角膜生物力学特性的人群研究，证实了已确定的基因，并发现了许多新的易感性变异和生物学途径。最近在家族性圆锥角膜遗传决定因素方面的发现揭示了功能重要的变异，并建立了第一个圆锥角膜小鼠模型。最新的转录组和表达研究开始评估新的非编码 RNA 靶标，除了鉴定编码基因的组织特异性效应。对更好地预测治疗结果的基因组的最新见解正在将基因组医学引入圆锥角膜的临床实践。