Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes
Adam J Dugan, Peter T Nelson, Yuriko Katsumata, Lincoln M P Shade, Merilee A Teylan, Kevin L Boehme, Shubhabrata Mukherjee, John S K Kauwe et al.. Neurobiology of aging, 2021-10-29
Topic: Genetics and APOE
The genetic locus containing the WWOX and MAF genes was implicated as a clinical Alzheimer's disease (AD) risk locus in two recent large meta-analytic genome wide association studies (GWAS). In a prior GWAS, we identified a variant in WWOX as a suggestive risk allele for hippocampal sclerosis. We hypothesized that the WWOX/MAF locus may be preferentially associated with non-plaque- and non-tau-related neuropathological changes (NC). Data from research participants with GWAS and autopsy measures from the National Alzheimer's Coordinating Center and the Religious Orders Study and the Rush Memory and Aging Project were meta-analyzed. Notably, no variants in the locus were significantly associated with ADNC. However, several WWOX/MAF variants had significant adjusted associations with limbic-predominant age-related TDP-43 encephalopathy NC (LATE-NC), HS, and brain arteriolosclerosis. These associations remained largely unchanged after adjustment for ADNC (operationalized with standard semiquantitative staging), suggesting that these associations are independent of ADNC. Thus, WWOX genetic variants were associated pathologically with LATE-NC, not ADNC.
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APA 7th
Dugan, A. J., Nelson, P. T., Katsumata, Y., Shade, L. M. P., Teylan, M. A., Boehme, K. L., et al. (2022). Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2021.10.011
Vancouver
Dugan AJ, Nelson PT, Katsumata Y, Shade LMP, Teylan MA, Boehme KL, et al. Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes. Neurobiology of aging. 2022. doi:10.1016/j.neurobiolaging.2021.10.011. PMID: 34852950.
BibTeX
@article{dugan2022-34852950,
author = {Dugan, Adam J and Nelson, Peter T and Katsumata, Yuriko and Shade, Lincoln M P and Teylan, Merilee A and Boehme, Kevin L and Mukherjee, Shubhabrata and Kauwe, John S K and others},
title = {{Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes}},
journal = {Neurobiology of aging},
year = {2022},
doi = {10.1016/j.neurobiolaging.2021.10.011},
pmid = {34852950},
url = {https://doi.org/10.1016/j.neurobiolaging.2021.10.011}
}
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Key findings
- We hypothesized that the WWOX/MAF locus may be preferentially associated with non-plaque- and non-tau-related neuropathological changes (NC).
- Notably, no variants in the locus were significantly associated with ADNC.
- However, several WWOX/MAF variants had significant adjusted associations with limbic-predominant age-related TDP-43 encephalopathy NC (LATE-NC), HS, and brain arteriolosclerosis.
- These associations remained largely unchanged after adjustment for ADNC (operationalized with standard semiquantitative staging), suggesting that these associations are independent of ADNC.
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Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded 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, multi-centre collaboration and free to read, so those were left out: it earned 23 of the 56 points we could judge it on, which is 41 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 3 / 5 | 2022 — within 6 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 | — / 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 |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34852950) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 23 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 23 of the 56 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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