Topic: Brain proteins, microglia and lab models
To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were found in both the AD and PD data sets. For PD, significant evidence for linkage to AAO was found on chromosome 1p (LOD = 3.41). For AD, the AAO effect of APOE (LOD = 3.28) was confirmed. In addition, evidence for AAO linkage on chromosomes 6 and 10 was identified independently in both the AD and PD data sets. Subsequent unified analyses of these regions identified a single peak on chromosome 10q between D10S1239 and D10S1237, with a maximum LOD score of 2.62. These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Li, Y. J., Scott, W. K., Hedges, D. J., Zhang, F., Gaskell, P. C., Nance, M. A., et al. (2002). Age at onset in two common neurodegenerative diseases is genetically controlled. American journal of human genetics. https://doi.org/10.1086/339815
Vancouver
Li YJ, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, et al. Age at onset in two common neurodegenerative diseases is genetically controlled. American journal of human genetics. 2002. doi:10.1086/339815. PMID: 11875758.
BibTeX
@article{li2002-11875758,
author = {Li, Y. J. and Scott, W. K. and Hedges, D. J. and Zhang, F. and Gaskell, P. C. and Nance, M. A. and Watts, R. L. and Hubble, J. P. and others},
title = {{Age at onset in two common neurodegenerative diseases is genetically controlled}},
journal = {American journal of human genetics},
year = {2002},
doi = {10.1086/339815},
pmid = {11875758},
url = {https://doi.org/10.1086/339815}
}
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Key findings
- For PD, significant evidence for linkage to AAO was found on chromosome 1p (LOD = 3.41).
- These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases.
Why it matters
This genomic screen found that age at onset in Alzheimer disease and Parkinson disease is partly genetically controlled, with evidence for a common gene on chromosome 10q. It identifies genetic influences on when disease starts but does not provide any treatment, cure, or prevention.
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Study details
- Participants449
- Evidence strengthLow
How this study scored 53/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (American journal of human genetics) |
| Journal's citation record | 3 / 4 | The American Journal of Human Genetics: journal h-index 385 (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 | 2002 — older than 20 years, still counted |
| Sample size | 2 / 4 | 449 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 313 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.0 citations a year over 26 year(s) since 2002 |
| Impact for its field and year | 5 / 6 | Cited 20.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 7 other studies in this library |
| Still being cited | 1 / 4 | Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Margaret Ann Pericak‐Vance: h-index 41 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of California, Los Angeles: institution h-index 1,923 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 19 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 11875758) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
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