ArticleOphthalmology2025
Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program.
Article in Ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Selection Signatures from RAD-Seq Reveal Candidate Genomic Regions Potentially Underlying Immune and Adaptive Traits in Southwest Chinese Local Chickens.Animals : an open access journal from MDPI · 2026Article
- Amblyopia and adult health: a comprehensive analysis of long-term systemic, sensory and mental health comorbidities in a national cohort.The British journal of ophthalmology · 2026Article
- Genomic Copy Number Variants Associated With Strabismus and Amblyopia in the All of Us Research Program.Investigative ophthalmology & visual science · 2026Article
- Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in theOphthalmology scienceArticle
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Authors and funding
7 authors.
Funding
Abstract
purposeAmblyopia is characterized by decreased visual acuity due to abnormal visual experience during development. It affects approximately 3% of the population and is associated with abnormal development of the visual cortex. Despite treatment, many patients have residual visual acuity deficits. This study aimed to explore the genetic contributions to amblyopia.
designCase-control.
participantsThe All of Us Research Program includes genotypic and phenotypic data from a diverse population of adults (age ≥ 18 years) across the United States. A total of 764 subjects with amblyopia (based on International Classification of Diseases and Systematized Nomenclature of Medicine codes) and 122 305 controls with no record of amblyopia and with whole genome sequencing data were compared. Only participants of European genetic ancestry were included because of small numbers of affected participants in other ancestral groups.
methodsGenome-wide association study (GWAS) of common variants (minor allele frequency > 1%) and rare variant association study (RVAS) at the gene level for amblyopia of participants in the All of Us Research Program.
main outcome measuresIndividual single nucleotide polymorphisms (SNPs) significantly associated with amblyopia and genes with significant burden of rare variants in amblyopia.
resultsThe GWAS revealed 4 loci that approached statistical significance defined as P < 5e-8: rs56105618, rs1349660, rs7958343, and rs138693522. Each of the variants is an expression quantitative trait locus (eQTL) for a gene expressed in the brain or related to neural development. This RVAS revealed 15 genes with a statistically significant (P < 5e-05) different burden of variants: DCP1B, OR12D2, PCDHA4, ALKBH8, NMUR2, OR52P1P, NEU1, CACNB2, PSMA7, LRR1, ZNF831, FSIP2, ZNF654, CES5A, and MPV17, several of which have known roles in neurodevelopment.
conclusionsThe identification of genes linked to amblyopia with roles in neurodevelopment suggests that the neurodevelopmental changes in amblyopia are not only secondary to abnormal visual experience but also may result from the interaction of primary neurodevelopmental deficits with abnormal experience. This potentially explains why some children develop amblyopia and others do not with the same ocular risk factors, may explain differences in treatment outcomes, and suggests new avenues for amblyopia treatment. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
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