ArticleInvestigative ophthalmology & visual science2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
Article in Investigative ophthalmology & visual science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03059420 (Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders), which is not on this map. Cited by 22 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who cites it
22 citing papers in PubMed.
- Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus.Ophthalmology · 2026Article
- Genomic structural equation modeling identifies shared genetic architecture and novel loci for halitosis.Scientific reports · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Article
- Article
- 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
- Diffusion tensor imaging of horizontal extraocular muscles in patients with concomitant and paralytic esotropia.International journal of ophthalmology · 2023Article
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
- Genomic map of candidate human imprint control regions: the imprintome.Epigenetics · 2022Article
- Genetic causal inference between amblyopia and perinatal factors.Scientific reports · 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
- Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.Journal of medical genetics · 2022Article
- Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus.Journal of translational medicine · 2021Article
- Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.Genes · 2021Observational
- Evidence for germline non-genetic inheritance of human phenotypes and diseases.Clinical epigenetics · 2020Review
- Recurrent Rare Copy Number Variants Increase Risk for Esotropia.Investigative ophthalmology & visual science · 2020Article
- A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.Human genetics · 2019Article
- Maternal-biased H3K27me3 correlates with paternal-specific gene expression in the human morula.Genes & development · 2019Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Purpose: To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest incidence in European ancestry populations, and is believed to be inherited as a complex trait. Methods: White European American discovery cohorts with nonaccommodative (826 cases and 2991 controls) or accommodative (224 cases and 749 controls) esotropia were investigated. White European Australian and United Kingdom cohorts with nonaccommodative (689 cases and 1448 controls) or accommodative (66 cases and 264 controls) esotropia were tested for replication. We performed a genome-wide case-control association study using a mixed linear additive model. Meta-analyses of discovery and replication cohorts were then conducted. Results: A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 × 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21 (meta-analysis OR = 1.33, P = 9.58 × 10-11). This single nucleotide polymorphism (SNP) is differentially methylated, and there is a statistically significant skew toward paternal inheritance in the discovery cohort. Meta-analysis of the accommodative discovery and replication cohorts identified an association with rs912759 [T] (OR = 0.59, P = 1.89 × 10-08), an intergenic SNP on chromosome 1p31.1. Conclusions: This is the first genome-wide association study (GWAS) to identify significant associations in esotropia and suggests a parent-of-origin effect. Additional cohorts will permit replication and extension of these findings. Future studies of rs2244352 and WRB should provide insight into pathophysiological mechanisms underlying comitant strabismus.
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