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Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta
John S K Kauwe, Jun Wang, Kevin Mayo, John C Morris, Anne M Fagan, David M Holtzman, Alison M Goate. Neurogenetics, 2008-09-24
Topic: Genetics and APOE
The use of quantitative endophenotypes in genetic studies may provide greater power, allowing for the use of powerful statistical methods and a biological model for the effects of the disease-associated genetic variation. Cerebrospinal fluid (CSF) amyloid beta (Abeta) levels are promising endophenotypes for late-onset Alzheimer's disease (LOAD) and show correlation with LOAD status and Abeta deposition. In this study, we investigated 29 single nucleotide polymorphisms (SNPs) positive in AlzGene ( http://www.alzgene.org ) meta-analyses, for association with CSF Abeta levels in 313 individuals. This study design makes it possible to replicate reported LOAD risk alleles while contributing novel information about the mechanism by which they might affect that risk. Alleles in ACE, APOE, BDNF, DAPK1, and TF are significantly associated with CSF Abeta levels. In vitro analysis of the TF SNP showed a change in secreted Abeta consistent with the CSF phenotype and known Alzheimer's disease variants, demonstrating the utility of this approach in identifying SNPs that influence risk for disease via an Abeta-related mechanism.
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APA 7th
Kauwe, J. S. K., Wang, J., Mayo, K., Morris, J. C., Fagan, A. M., Holtzman, D. M., et al. (2009). Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. Neurogenetics. https://doi.org/10.1007/s10048-008-0150-4
Vancouver
Kauwe JSK, Wang J, Mayo K, Morris JC, Fagan AM, Holtzman DM, et al. Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. Neurogenetics. 2009. doi:10.1007/s10048-008-0150-4. PMID: 18813964.
BibTeX
@article{kauwe2009-18813964,
author = {Kauwe, John S K and Wang, Jun and Mayo, Kevin and Morris, John C and Fagan, Anne M and Holtzman, David M and Goate, Alison M},
title = {{Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta}},
journal = {Neurogenetics},
year = {2009},
doi = {10.1007/s10048-008-0150-4},
pmid = {18813964},
url = {https://doi.org/10.1007/s10048-008-0150-4}
}
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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- Alleles in ACE, APOE, BDNF, DAPK1, and TF are significantly associated with CSF Abeta levels.
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Study details
- Study designmeta-analysis
- Participants313
- Evidence strengthHigh
How this study scored 75/100
Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multicenter collaboration and free to read, so those were left out: it earned 42 of the 56 points we could judge it on, which is 75 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurogenetics) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2009 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 313 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 | A review of other studies — randomization is not credited here |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 18813964) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 42 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 42 of the 56 points we could judge it on is 75 out of 100. |
| Total | 75 / 100 | — |
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