ArticlePloS one2012
δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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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
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores.Molecular neurodegeneration · 2023Pooled it
- Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.BMC ophthalmology · 2020Pooled it
- δ-catenin controls layer-specific transcriptional maturation of astrocytes via Zbtb20.bioRxiv : the preprint server for biology · 2026Article
- δ-catenin haploinsufficiency is sufficient to alter behaviors and glutamatergic synapses in mice.Neuroscience · 2026Article
- Bloodwork-free Early Screening for Alzheimer's Disease via Comorbid Pattern Recognition in Electronic Health Records.Research square · 2026Article
- DNA methylation associations with cognitive function in early-stage hormone receptor-positive breast cancer patients.Epigenomics · 2025Article
- Investigating the eye in Down syndrome as a window to Alzheimer's disease: the REVEAL protocol - a clinical cross-sectional study.BMJ open · 2025Article
- Review
- Roles and regulation of δ-catenin in tumorigenesis and neuronal diseases.Frontiers in cell and developmental biology · 2025Review
- Prenatal exposure to valproic acid reduces synaptic δ-catenin levels and disrupts ultrasonic vocalization in neonates.Neuropharmacology · 2024Article
- δ-Catenin controls astrocyte morphogenesis via layer-specific astrocyte-neuron cadherin interactions.The Journal of cell biology · 2023Article
- Editorial: Rho family GTPases and their effectors in neuronal survival and neurodegeneration.Frontiers in cellular neuroscience · 2023Article
- Alzheimer's disease amyloid-β pathology in the lens of the eye.Experimental eye research · 2022Article
- Alzheimer's Disease Seen through the Eye: Ocular Alterations and Neurodegeneration.International journal of molecular sciences · 2022Review
- Arvcf Dependent Adherens Junction Stability is Required to Prevent Age-Related Cortical Cataracts.Frontiers in cell and developmental biology · 2022Article
- Delta-Catenin as a Modulator of Rho GTPases in Neurons.Frontiers in cellular neuroscience · 2022Review
- Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach.Scientific reports · 2021Article
- Protein and Imaging Biomarkers in the Eye for Early Detection of Alzheimer's Disease.Journal of Alzheimer's disease reports · 2021Review
- Article
- Three-dimensional visualization of opacifications in the murine crystalline lens by in vivo optical coherence tomography.Biomedical optics express · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
Multiple lines of evidence suggest that specific subtypes of age-related cataract (ARC) and Alzheimer disease (AD) are related etiologically. To identify shared genetic factors for ARC and AD, we estimated co-heritability of quantitative measures of cataract subtypes with AD-related brain MRI traits among 1,249 members of the Framingham Eye Study who had a brain MRI scan approximately ten years after the eye exam. Cortical cataract (CC) was found to be co-heritable with future development of AD and with several MRI traits, especially temporal horn volume (THV, ρ = 0.24, P<10(-4)). A genome-wide association study using 187,657 single nucleotide polymorphisms (SNPs) for the bivariate outcome of CC and THV identified genome-wide significant association with CTNND2 SNPs rs17183619, rs13155993 and rs13170756 (P<2.6 × 10(-7)). These SNPs were also significantly associated with bivariate outcomes of CC and scores on several highly heritable neuropsychological tests (5.7 × 10(-9) ≤ P<3.7 × 10(-6)). Statistical interaction was demonstrated between rs17183619 and APP SNP rs2096488 on CC (P = 0.0015) and CC-THV (P = 0.038). A rare CTNND2 missense mutation (G810R) 249 base pairs from rs17183619 altered δ-catenin localization and increased secreted amyloid-β(1-42) in neuronal cell culture. Immunohistopathological analysis of lens tissue obtained from two autopsy-confirmed AD subjects and two non-AD controls revealed elevated expression of δ-catenin in epithelial and cortical regions of lenses from AD subjects compared to controls. Our findings suggest that genetic variation in delta catenin may underlie both cortical lens opacities in mid-life and subsequent MRI and cognitive changes that presage the development of AD.
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Registered trials
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