SynthesisPLoS genetics2009
EPHA2 is associated with age-related cortical cataract in mice and humans.
Synthesis in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 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
107 citing papers in PubMed, 3 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.Genome biology · 2025Pooled it
- Transcriptome Meta-Analysis Uncovers Cell-Specific Regulatory Relationships in Embryonic, Juvenile, Adult, and Aged Mouse Lens Epithelium and Fibers.Investigative ophthalmology & visual science · 2025Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients.Cancer epidemiology · 2018Trial
- Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.PloS one · 2013Trial
- Bi-allelic EPHA2 mutations cause dysosteosclerosis by inhibiting osteoclastogenesis and enhancing osteoblastogenesis.Bone research · 2026Article
- Decorin Evokes a Pro-lysosomal Pathway in Lymphatic Endothelial Cells.Proteoglycan research · 2025Article
- Eph-ephrin signaling affects lens growth and shape, nucleus size, and gradient refractive index in adult mice.Frontiers in ophthalmology · 2025Article
- Genome-wide DNA methylation and transcriptome sequencing analyses of lens tissue in an age-related mouse cataract model.PloS one · 2025Article
- Article
- Through theGenes · 2024Review
- APOE genotype-specific methylation patterns are linked to Alzheimer disease pathology and estrogen response.Translational psychiatry · 2024Article
- Mucosal TLR5 activation controls healthspan and longevity.Nature communications · 2024Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Spatial-temporal comparison of Eph/Ephrin gene expression in ocular lenses from aging and knockout mice.Frontiers in ophthalmology · 2024Article
- Redox Regulation in Age-Related Cataracts: Roles for Glutathione, Vitamin C, and the NRF2 Signaling Pathway.Nutrients · 2023Review
- Regorafenib inhibits EphA2 phosphorylation and leads to liver damage via the ERK/MDM2/p53 axis.Nature communications · 2023Article
- Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.Biomolecules · 2023Article
- Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods.PloS one · 2023Article
- Article
47 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 4 countries.
Funding
Abstract
Age-related cataract is a major cause of blindness worldwide, and cortical cataract is the second most prevalent type of age-related cataract. Although a significant fraction of age-related cataract is heritable, the genetic basis remains to be elucidated. We report that homozygous deletion of Epha2 in two independent strains of mice developed progressive cortical cataract. Retroillumination revealed development of cortical vacuoles at one month of age; visible cataract appeared around three months, which progressed to mature cataract by six months. EPHA2 protein expression in the lens is spatially and temporally regulated. It is low in anterior epithelial cells, upregulated as the cells enter differentiation at the equator, strongly expressed in the cortical fiber cells, but absent in the nuclei. Deletion of Epha2 caused a significant increase in the expression of HSP25 (murine homologue of human HSP27) before the onset of cataract. The overexpressed HSP25 was in an underphosphorylated form, indicating excessive cellular stress and protein misfolding. The orthologous human EPHA2 gene on chromosome 1p36 was tested in three independent worldwide Caucasian populations for allelic association with cortical cataract. Common variants in EPHA2 were found that showed significant association with cortical cataract, and rs6678616 was the most significant in meta-analyses. In addition, we sequenced exons of EPHA2 in linked families and identified a new missense mutation, Arg721Gln, in the protein kinase domain that significantly alters EPHA2 functions in cellular and biochemical assays. Thus, converging evidence from humans and mice suggests that EPHA2 is important in maintaining lens clarity with age.
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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.