Update on the genetics of keratoconus

被引：59

作者：

Bykhovskaya, Yelena ^{[1
,2
]}

Rabinowitz, Yaron S. ^{[1
,2
]}

机构：

[1] Cornea Genet Eye Inst, Dept Surg, Beverly Hills, Los Angeles, CA 90095 USA

[2] Cedars Sinai, Board Governors Regenerat Med Inst, Beverly Hills, Los Angeles, CA USA

来源：

EXPERIMENTAL EYE RESEARCH | 2021年 / 202卷

关键词：

Keratoconus; Genetics; GWAS; Variant; CXL; Polygenic risk score; GENOME-WIDE ASSOCIATION; CENTRAL CORNEAL THICKNESS; COLLAGEN CROSS-LINKING; SINGLE NUCLEOTIDE POLYMORPHISMS; VSX1; GENE; BIOMECHANICAL PROPERTIES; FAMILIAL KERATOCONUS; TUBEROUS SCLEROSIS; NONCODING RNAS; CANDIDATE GENE;

D O I：

10.1016/j.exer.2020.108398

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页数：11

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