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Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages
Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H et al.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2017-12-20
Topic: Amyloid, tau and blood-test diagnosis
Introduction Genetic associations for endophenotypes of Alzheimer's disease (AD) in cognitive stages preceding AD have not been thoroughly evaluated. Methods We conducted genome-wide association studies for AD-related endophenotypes including hippocampal volume, logical memory scores, and cerebrospinal fluid Aβ 42 and total/phosphorylated tau in cognitively normal (CN), mild cognitive impairment, and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study. Results In CN subjects, study-wide significant (P -9 ) loci were identified for total tau near SRRM4 and C14orf79 and for hippocampal volume near MTUS1.
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APA 7th
Chung, J., Wang, X., Maruyama, T., Ma, Y., Zhang, X., Mez, J., et al. (2018). Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Alzheimer's & dementia : the journal of the Alzheimer's Association. https://doi.org/10.1016/j.jalz.2017.11.006
Vancouver
Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, et al. Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2018. doi:10.1016/j.jalz.2017.11.006. PMID: 29274321.
BibTeX
@article{chung2018-29274321,
author = {Chung, J. and Wang, X. and Maruyama, T. and Ma, Y. and Zhang, X. and Mez, J. and Sherva, R. and Takeyama, H. and others},
title = {{Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages}},
journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
year = {2018},
doi = {10.1016/j.jalz.2017.11.006},
pmid = {29274321},
url = {https://doi.org/10.1016/j.jalz.2017.11.006}
}
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Key findings
- Methods We conducted genome-wide association studies for AD-related endophenotypes including hippocampal volume, logical memory scores, and cerebrospinal fluid Aβ 42 and total/phosphorylated tau in cognitively normal (CN), mild cognitive impairment, and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study.
- Results In CN subjects, study-wide significant (P -9 ) loci were identified for total tau near SRRM4 and C14orf79 and for hippocampal volume near MTUS1.
- In mild cognitive impairment subjects, study-wide significant association was found with single nucleotide polymorphisms (SNPs) near ZNF804B for logical memory test of delayed recall scores.
- We found consistent expression patterns of C14orf40 and MTUS1 in carriers with risk alleles of expression SNPs and in brains of AD patients, compared with in the noncarriers and in brains of controls.
Why it matters
This study looked for genetic variants linked to Alzheimer's-related brain and fluid measures in people before dementia diagnosis. It is an early genetic association study and does not provide a treatment, cure, or prevention.
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Study details
- Evidence strengthLow
How this study scored 42/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia : the journal of the Alzheimer's Association) |
| Journal's citation record | 2 / 4 | Alzheimer s & Dementia: journal h-index 228 (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 | 2 / 5 | 2018 — within 10 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 73 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.3 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 3 / 6 | Cited 5.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 2 / 4 | Cited 16 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Gyungah Jun: h-index 47 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Boston University: institution h-index 1,456 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 29274321) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 42 / 100 | — |
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