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δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes
Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA et al.. PloS one, 2012-09-11
Topic: Brain proteins, microglia and lab models
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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APA 7th
Jun, G., Moncaster, J. A., Koutras, C., Seshadri, S., Buros, J., McKee, A. C., et al. (2012). δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PloS one. https://doi.org/10.1371/journal.pone.0043728
Vancouver
Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, et al. δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PloS one. 2012. doi:10.1371/journal.pone.0043728. PMID: 22984439.
BibTeX
@article{jun2012-22984439,
author = {Jun, G. and Moncaster, J. A. and Koutras, C. and Seshadri, S. and Buros, J. and McKee, A. C. and Levesque, G. and Wolf, P. A. and others},
title = {{δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes}},
journal = {PloS one},
year = {2012},
doi = {10.1371/journal.pone.0043728},
pmid = {22984439},
url = {https://doi.org/10.1371/journal.pone.0043728}
}
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Key findings
- Multiple lines of evidence suggest that specific subtypes of age-related cataract (ARC) and Alzheimer disease (AD) are related etiologically.
- 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).
- 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.
Why it matters
This work links a gene region, CTNND2, to both a type of cataract and future Alzheimer-related brain changes, and a rare CTNND2 mutation altered cell behavior and increased secreted amyloid-beta in neuronal cell culture. These are genetic and laboratory findings, not a treatment or prevention result, so they do not yet show any way to treat or prevent Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 46/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (PloS one) |
| Journal's citation record | 4 / 4 | PLoS ONE: journal h-index 594 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2012 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 66 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.1 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 3 / 6 | Cited 4.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 1 / 4 | Cited 8 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Lindsay A. Farrer: h-index 119 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Cambridge: institution h-index 1,973 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22984439) |
| Free to read | 2 / 2 | Free to read |
| Total | 46 / 100 | — |
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