Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12
Pericak-Vance MA, Bass MP, Yamaoka LH, Gaskell PC, Scott WK, Terwedow HA, Menold MM, Conneally PM et al.. JAMA, 1997-10-01
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Main outcome measures Linkage analysis results generated using both genetic model-dependent (lod score) and model-independent methods. Results Fifteen chromosomal regions warranted initial follow-up. Follow-up analyses revealed 4 regions of continued interest on chromosomes 4, 6, 12, and 20, with the strongest results observed forchromosome 12. Chromosome 12 gave the strongest and most consistent results with a peak multipoint MLS of 3.5, suggesting that this region contains a new susceptibility gene for AD.
What this study adds
Evidence grade: Low
The record lists 280 participants. This genomic screen in families with late-onset Alzheimer disease found the strongest signal on chromosome 12, suggesting a possible new susceptibility gene there. It is a gene-finding study and does not itself provide a treatment, cure or prevention.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Pericak-Vance, M. A., Bass, M. P., Yamaoka, L. H., Gaskell, P. C., Scott, W. K., Terwedow, H. A., et al. (1997). Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA. https://doi.org/10.1001/jama.1997.03550150041033
Vancouver
Pericak-Vance MA, Bass MP, Yamaoka LH, Gaskell PC, Scott WK, Terwedow HA, et al. Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA. 1997. doi:10.1001/jama.1997.03550150041033. PMID: 9333264.
BibTeX
@article{pericakvance1997-9333264,
author = {Pericak-Vance, M. A. and Bass, M. P. and Yamaoka, L. H. and Gaskell, P. C. and Scott, W. K. and Terwedow, H. A. and Menold, M. M. and Conneally, P. M. and others},
title = {{Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12}},
journal = {JAMA},
year = {1997},
doi = {10.1001/jama.1997.03550150041033},
pmid = {9333264},
url = {https://doi.org/10.1001/jama.1997.03550150041033}
}
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.
Key findings
- Main outcome measures Linkage analysis results generated using both genetic model-dependent (lod score) and model-independent methods.
- Results Fifteen chromosomal regions warranted initial follow-up.
- Follow-up analyses revealed 4 regions of continued interest on chromosomes 4, 6, 12, and 20, with the strongest results observed forchromosome 12.
- Chromosome 12 gave the strongest and most consistent results with a peak multipoint MLS of 3.5, suggesting that this region contains a new susceptibility gene for AD.
Why it matters
This genomic screen in families with late-onset Alzheimer disease found the strongest signal on chromosome 12, suggesting a possible new susceptibility gene there. It is a gene-finding study and does not itself provide a treatment, cure or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Participants280
- Evidence strengthLow
How this study scored 53/100
Published in a top-tier journal. Scored zero for study design, effect reported and randomized / blinded because the record does not state it. We have no data on institution's track record, so that was left out: it earned 51 of the 97 points we could judge it on, which is 53 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 10 / 10 | Tier 1 — top-tier general journal (JAMA) |
| Journal's citation record | 4 / 4 | JAMA: journal h-index 1,011 (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 | 1997 — older than 20 years, still counted |
| Sample size | 2 / 4 | 280 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 207 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.7 citations a year over 31 year(s) since 1997 |
| Impact for its field and year | 4 / 6 | Cited 14.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 10 other studies in this library |
| Still being cited | 0 / 4 | Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Margaret A. Pericak‐Vance: h-index 114 (OpenAlex, whole career) |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | 0 / 3 | OpenAlex lists 0 institution(s) in 0 countries — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9333264) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 51 / 97 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 51 of the 97 points we could judge it on is 53 out of 100. |
| Total | 53 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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