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PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation
Jun G, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S et al.. Annals of neurology, 2014-07-29
Topic: Brain proteins, microglia and lab models
Objective Much of the genetic basis for Alzheimer disease (AD) is unexplained. We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor allele frequency Methods We conducted a genome-wide association study in the Framingham Heart Study (discovery) and NIA-LOAD (National Institute on Aging-Late-Onset Alzheimer Disease) Study (replication) family-based cohorts using an approach that accounts for family structure and calculates a risk score for AD as the outcome. Links between the most promising gene candidate and AD pathogenesis were explored in silico as well as experimentally in cell-based models and in human brain.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Jun, G., Asai, H., Zeldich, E., Drapeau, E., Chen, C., Chung, J., et al. (2014). PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Annals of neurology. https://doi.org/10.1002/ana.24219
Vancouver
Jun G, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, et al. PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Annals of neurology. 2014. doi:10.1002/ana.24219. PMID: 25043464.
BibTeX
@article{jun2014-25043464,
author = {Jun, G. and Asai, H. and Zeldich, E. and Drapeau, E. and Chen, C. and Chung, J. and Park, J. H. and Kim, S. and others},
title = {{PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation}},
journal = {Annals of neurology},
year = {2014},
doi = {10.1002/ana.24219},
pmid = {25043464},
url = {https://doi.org/10.1002/ana.24219}
}
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Key findings
- We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor allele frequency < 0.10).
- Links between the most promising gene candidate and AD pathogenesis were explored in silico as well as experimentally in cell-based models and in human brain.
- Results Genome-wide significant association was identified with a PLXNA4 single nucleotide polymorphism (rs277470) located in a region encoding the semaphorin-3A (SEMA3A) binding domain (meta-analysis p value [meta-P] = 4.1 × 10(-8) ).
- A test for association with the entire region was also significant (meta-P = 3.2 × 10(-4) ).
Why it matters
This work identified PLXNA4 as a gene associated with Alzheimer's disease and found it modulates tau phosphorylation in cell models and human brain. It points to a possible biological pathway, but it is early genetic and laboratory research, not a treatment or cure.
Study details
- Study designmeta-analysis
- Evidence strengthHigh
How this study scored 62/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2014 — 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) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization is not credited here |
| Times cited | 4 / 7 | Cited 68 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 2 / 6 | Cited 2.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 6 other studies in this library |
| Still being cited | 1 / 4 | Cited 12 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 Pennsylvania: institution h-index 1,859 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 12 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25043464) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 62 / 100 | — |
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