Abstract
Myopia is the most common eye condition leading to visual impairment and is greatly influenced by genetics. Over the last two decades, more than 400 associated gene loci have been mapped for myopia and refractive errors via family linkage analyses, candidate gene studies, genome-wide association studies (GWAS), and next-generation sequencing (NGS). Lifestyle factors, such as excessive near work and short outdoor time, are the primary external factors affecting myopia onset and progression. Notably, besides becoming a global health issue, myopia is more prevalent and severe among East Asians than among Caucasians, especially individuals of Chinese, Japanese, and Korean ancestry. Myopia, especially high myopia, can be serious in consequences. The etiology of high myopia is complex. Prediction for progression of myopia to high myopia can help with prevention and early interventions. Prediction models are thus warranted for risk stratification. There have been vigorous investigations on molecular genetics and lifestyle factors to establish polygenic risk estimations for myopia. However, genes causing myopia have to be identified in order to shed light on pathogenesis and pathway mechanisms. This report aims to examine current evidence regarding (1) the genetic architecture of myopia; (2) currently associated myopia loci identified from the OMIM database, genetic association studies, and NGS studies; (3) gene-environment interactions; and (4) the prediction of myopia via polygenic risk scores (PRSs). The report also discusses various perspectives on myopia genetics and heredity.
Highlights
Myopia is the most common cause of vision loss, with an uncorrected refractive error being the leading ocular disorder, causing visual impairment worldwide [1]
In our cohort of Hong Kong Chinese subjects, we found that the RSPO1 single nucleotide polymorphisms (SNP) rs12144790 and the WNT7B SNP rs10453441 are associated with axial length among Chinese children [112]
We found that SNPs in three genes—ZFHX1B, KCNQ5, and GJD2—were associated with faster myopia progression among Chinese children than other ethnic groups; in particular, Chinese children exhibiting the highest polygenic risk scores (PRSs) defined by the three gene SNPs should be given appropriate intervention for myopia retardation [153]
Summary
Myopia is the most common cause of vision loss, with an uncorrected refractive error being the leading ocular disorder, causing visual impairment worldwide [1]. The known genetic loci from genetic exploration in the recent 20 years, only explained less than 20% of the heritability for myopia in European and even less in East Asian children [19] Another earlier single nucleotide polymorphisms (SNP)-based heritability estimation showed a heritability range from 25% to 35% [20]. It has been reported as 30.6% among Caucasians across Europe [22], 41.6% among a population of both white and black Americans in the United States [23], 41.8% among an elderly Japanese population, and 90% among high school students in East Asia [1] These population-based epidemiological investigations have shown the essential impacts of genetic factors on the onset and progression of myopia. A history of myopia among parents (“parental myopia”) significantly correlates with the myopia occurrence of their children [24]
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