Investigative ophthalmology & visual science · 2025
IMI-Myopia Genetics Report.
СтатьяОбзорПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Voogelaar Mats, Tedja Milly S, Guggenheim Jeremy A, Saw Seang-Mei, Tjon-Fo-Sang Martha, Mackey David A, Hammond Christopher J, Klaver Caroline C W, Verhoeven Virginie J M
Аннотация
PURPOSE: The genetic landscape of myopia has advanced considerably since the previous International Myopia Institute genetics reports. This white paper provides an updated overview of current findings on myopia genetics and identifies priorities for future research.
METHODS: We performed a comprehensive literature review covering genome-wide association studies (GWASs), rare variant analyses, functional genomics, and multiomics approaches. Specific focus areas included common and high myopia, monogenic syndromes, and gene-environment interactions.
RESULTS: Over 1000 common variants have now been associated with refractive error and myopia, implicating pathways in retinal signaling, extracellular matrix remodeling, and neurodevelopment. Whole-exome and whole-genome sequencing studies have uncovered rare variants in new candidate genes for high and syndromic myopia. Polygenic risk scores show improved predictive power when combined with environmental and demographic factors. A growing number of studies have explored gene-environment interactions, genetic pleiotropy, and causal inference using Mendelian randomization. These analyses support a role for educational attainment, screen time, physical activity, and metabolic or inflammatory biomarkers in refractive error development.
CONCLUSIONS: While a substantial portion of myopia heritability remains unexplained, future efforts should prioritize integrative approaches combining genetic, functional, and multiomics data across diverse populations. This will be essential for advancing personalized risk prediction, our understanding of gene-environment interplay, and identifying individuals most likely to benefit from targeted prevention or treatment strategies.
METHODS: We performed a comprehensive literature review covering genome-wide association studies (GWASs), rare variant analyses, functional genomics, and multiomics approaches. Specific focus areas included common and high myopia, monogenic syndromes, and gene-environment interactions.
RESULTS: Over 1000 common variants have now been associated with refractive error and myopia, implicating pathways in retinal signaling, extracellular matrix remodeling, and neurodevelopment. Whole-exome and whole-genome sequencing studies have uncovered rare variants in new candidate genes for high and syndromic myopia. Polygenic risk scores show improved predictive power when combined with environmental and demographic factors. A growing number of studies have explored gene-environment interactions, genetic pleiotropy, and causal inference using Mendelian randomization. These analyses support a role for educational attainment, screen time, physical activity, and metabolic or inflammatory biomarkers in refractive error development.
CONCLUSIONS: While a substantial portion of myopia heritability remains unexplained, future efforts should prioritize integrative approaches combining genetic, functional, and multiomics data across diverse populations. This will be essential for advancing personalized risk prediction, our understanding of gene-environment interplay, and identifying individuals most likely to benefit from targeted prevention or treatment strategies.