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ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology
Nelson PT, Estus S, Abner EL, Parikh I, Malik M, Neltner JH, Ighodaro E, Wang WX et al.. Acta neuropathologica, 2014-04-27
Topic: Brain proteins, microglia and lab models
Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer's Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer's Disease Center.
Key findings
- We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype.
- In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer's Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer's Disease Center.
- Altogether, 363 HS-Aging cases and 2,303 controls, all pathologically confirmed, provided statistical power to test for risk alleles with large effect size.
- A two-tier study design included GWAS from cohorts #1-3 (Stage I) to identify promising SNP candidates, followed by focused evaluation of particular SNPs in cohorts #4-5 (Stage II).
Why it matters
This study found an association between the ABCC9 gene and hippocampal sclerosis of aging, a brain disease in the elderly. It is a genetic association study, so it does not show that changing this gene would treat or prevent the disease.
Study details
- Study designmeta-analysis
- Participants624
- Effect sizeOR = 1.16; OR = 1.22
- Evidence strengthHigh
How this study scored 72/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Acta neuropathologica) |
| Journal's citation record | 3 / 4 | Acta Neuropathologica: journal h-index 287 (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 | 2 / 4 | 624 participants |
| Effect reported | 3 / 3 | Effect reported with a statistic (interval, p-value, ratio or similar) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | A review of other studies — randomisation is not credited here |
| Times cited | 4 / 7 | Cited 96 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 3 / 6 | Cited 5.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 2 / 4 | Cited 19 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author David W. Fardo: h-index 51 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 16 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24770881) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 72 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1007/s00401-014-1282-2
- PubMed: 24770881
- Original source →
- Free full text: eScholarship (California Digital Library) →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Nelson, P. T., Estus, S., Abner, E. L., Parikh, I., Malik, M., Neltner, J. H., et al. (2014). ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta neuropathologica. https://doi.org/10.1007/s00401-014-1282-2
Vancouver
Nelson PT, Estus S, Abner EL, Parikh I, Malik M, Neltner JH, et al. ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta neuropathologica. 2014. doi:10.1007/s00401-014-1282-2. PMID: 24770881.
BibTeX
@article{nelson2014-24770881,
author = {Nelson, P. T. and Estus, S. and Abner, E. L. and Parikh, I. and Malik, M. and Neltner, J. H. and Ighodaro, E. and Wang, W. X. and others},
title = {{ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology}},
journal = {Acta neuropathologica},
year = {2014},
doi = {10.1007/s00401-014-1282-2},
pmid = {24770881},
url = {https://doi.org/10.1007/s00401-014-1282-2}
}
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