An overview of myopia genetics. (November 2019)

• Record Type: Journal Article
• Authors: Cai, Xue-Bi; Shen, Shou-Ren; Chen, De-Fu; Zhang, Qingjiong; Jin, Zi-Bing
• Is Part Of: Experimental eye research. Volume 188(2019)
• Publication Date: 2019-11
• Subjects: Myopia -- Loci -- Gene -- Mutation -- Variant -- Genetic basis; D diopter -- GWAS genome-wide association study -- NGS next-generation sequencing -- CI confidence interval -- SNPs single nucleotide polymorphisms -- SE spherical equivalent -- HUGO Human Genome Organisation -- OR odds ratio -- LD linkage disequilibrium -- AMD age-related macular degeneration -- CREAM Consortium for Refractive Error and Myopia -- GO Gene Ontology; Ophthalmology -- Periodicals; Eye -- Periodicals; Œil -- Périodiques; Ophthalmology; Periodicals; Electronic journals; 612.8405
• DOI: 10.1016/j.exer.2019.107778
• Languages: English
• ISSNs: 0014-4835

Abstract

Abstract: Myopia is one of the leading ocular disorders causing visual impairment worldwide, with the prevalence increasing rapidly. It's a significant global public health concern in 21st century. Myopia, particularly high myopia, often exhibits apparent familial aggregation, and multiple evidences have shown that genetic factors significantly contribute to its pathogenesis. Recent molecular technologies such as linkage analysis, candidate gene authentication, genome-wide association study (GWAS), and next-generation sequencing (NGS) have identified many myopia-associated loci and genetic mutations or variants. There exist ethnic variations in myopia occurrence as observed in populations of different genetic backgrounds, and different genetic components are found to be associated with the development of myopia-related phenotypes. A better understanding of the genetic basis triggering and controlling myopic changes may further help in myopia prevention. This review is to provide an updated overview of genetic findings in non-syndromic myopia. Highlights: Myopia is highly heritable and simultaneously affected by environmental factors. 25 myopia loci have been revealed and ethnic variations are observed. NGS-based studies, combined with familial co-segregation and functional analysis, have identified a number of myopia genes. GWAS and a series of follow-up association studies have shown evidence of associations between numerous genes and myopia. Further studies in this area may drive the discovery of new insights into the genetic aspects of myopia.