SynthesisHuman molecular genetics2013
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Synthesis in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.
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.
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Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled it
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Human genetics · 2015Pooled it
- Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.PloS one · 2014Pooled it
- Focus on 16p13.3 Locus in Colon Cancer.PloS one · 2015Trial
- Exploring the Research Landscape of High Myopia: Trends, Contributors, and Key Areas of Focus.Medical science monitor : international medical journal of experimental and clinical research · 2023Article
- Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment.NPJ science of learning · 2023Article
- Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.Communications biology · 2023Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
- Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.PLoS genetics · 2022Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- The Role of GJD2(Cx36) in Refractive Error Development.Investigative ophthalmology & visual science · 2022Review
- Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021Article
- Article
- RNA-seq and GSEA identifies suppression of ligand-gated chloride efflux channels as the major gene pathway contributing to form deprivation myopia.Scientific reports · 2021Article
- Genome-wide association study for circulating fibroblast growth factor 21 and 23.Scientific reports · 2020Article
- Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.Human genetics · 2019Article
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC medical genetics · 2019Article
- Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.PloS one · 2019Article
- Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.Investigative ophthalmology & visual science · 2018Article
Corrections and comments
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Authors and funding
62 authors at 20 institutions in 11 countries.
Funding
Abstract
Visual refractive errors (REs) are complex genetic traits with a largely unknown etiology. To date, genome-wide association studies (GWASs) of moderate size have identified several novel risk markers for RE, measured here as mean spherical equivalent (MSE). We performed a GWAS using a total of 7280 samples from five cohorts: the Age-Related Eye Disease Study (AREDS); the KORA study ('Cooperative Health Research in the Region of Augsburg'); the Framingham Eye Study (FES); the Ogliastra Genetic Park-Talana (OGP-Talana) Study and the Multiethnic Study of Atherosclerosis (MESA). Genotyping was performed on Illumina and Affymetrix platforms with additional markers imputed to the HapMap II reference panel. We identified a new genome-wide significant locus on chromosome 16 (rs10500355, P = 3.9 × 10(-9)) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.