ArticleHuman genetics2019
A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.Nature communications · 2025Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- The global prevalence of horizontal strabismus: A systematic review and meta-analysis with a focus on ethnic variation.Survey of ophthalmologyPooled it
- Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus.Ophthalmology · 2026Article
- A Shared Genetic Basis Underlying Myopia-Exotropia Comorbidity.Investigative ophthalmology & visual science · 2026Article
- The global prevalence of horizontal strabismus: a systematic review and meta-analysis with a focus on ethnic variation.medRxiv : the preprint server for health sciences · 2025Article
- Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals.Nature communications · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Article
- Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.BMC medical genomics · 2025Article
- Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy.International journal of molecular sciences · 2024Article
- Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.JAMA ophthalmology · 2024Article
- Morphometric Analysis of the Eye by Magnetic Resonance Imaging inBiomedicines · 2024Article
- Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.PLoS genetics · 2023Article
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
- A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.Human molecular genetics · 2022Article
- Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy.International journal of molecular sciences · 2022Article
- Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus.Journal of translational medicine · 2021Article
- Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort.Scientific reports · 2021Article
- Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.Genes · 2021Observational
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E-08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus.
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