Topic: Amyloid, tau and blood-test diagnosis
Background Late-onset Alzheimer's disease (AD) is a complex multifactorial affliction, the pathogenesis of which is thought to involve gene-environment interactions that might be captured in the epigenome. The present study investigated epigenome-wide patterns of DNA methylation (5-methylcytosine, 5mC) and hydroxymethylation (5-hydroxymethylcytosine, 5hmC), as well as the abundance of unmodified cytosine (UC), in relation to AD. Results We identified epigenetic differences in AD patients (n = 45) as compared to age-matched controls (n = 35) in the middle temporal gyrus, pertaining to genomic regions close to or overlapping with genes such as OXT (- 3.76% 5mC, p Šidák = 1.07E-06), CHRNB1 (+ 1.46% 5hmC, p Šidák = 4.01E-04), RHBDF2 (- 3.45% UC, p Šidák = 4.85E-06), and C3 (- 1.20% UC, p Šidák = 1.57E-03). In parallel, in an independent cohort, we compared the blood methylome of converters to AD dementia (n = 54) and non-converters (n = 42), at a preclinical stage. DNA methylation in the same region of the OXT promoter as found in the brain was found to be associated with subsequent conversion to AD dementia in the blood of elderly, non-demented individuals (+ 3.43% 5mC, p Šidák = 7.14E-04). Conclusions The implication of genome-wide significant differential methylation of OXT, encoding oxytocin, in two independent cohorts indicates it is a promising target for future studies on early biomarkers and novel therapeutic strategies in AD.
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APA 7th
Lardenoije, R., Roubroeks, J. A. Y., Pishva, E., Leber, M., Wagner, H., Iatrou, A., et al. (2019). Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood. Clinical epigenetics. https://doi.org/10.1186/s13148-019-0755-5
Vancouver
Lardenoije R, Roubroeks JAY, Pishva E, Leber M, Wagner H, Iatrou A, et al. Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood. Clinical epigenetics. 2019. doi:10.1186/s13148-019-0755-5. PMID: 31775875.
BibTeX
@article{lardenoije2019-31775875,
author = {Lardenoije, R. and Roubroeks, J. A. Y. and Pishva, E. and Leber, M. and Wagner, H. and Iatrou, A. and Smith, A. R. and Smith, R. G. and others},
title = {{Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood}},
journal = {Clinical epigenetics},
year = {2019},
doi = {10.1186/s13148-019-0755-5},
pmid = {31775875},
url = {https://doi.org/10.1186/s13148-019-0755-5}
}
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Key findings
- Results We identified epigenetic differences in AD patients (n = 45) as compared to age-matched controls (n = 35) in the middle temporal gyrus, pertaining to genomic regions close to or overlapping with genes such as OXT (- 3.76% 5mC, p Šidák = 1.07E-06), CHRNB1 (+ 1.46% 5hmC, p Šidák = 4.01E-04), RHBDF2 (- 3.45% UC, p Šidák = 4.85E-06), and C3 (- 1.20% UC, p Šidák = 1.57E-03).
- DNA methylation in the same region of the OXT promoter as found in the brain was found to be associated with subsequent conversion to AD dementia in the blood of elderly, non-demented individuals (+ 3.43% 5mC, p Šidák = 7.14E-04).
- Conclusions The implication of genome-wide significant differential methylation of OXT, encoding oxytocin, in two independent cohorts indicates it is a promising target for future studies on early biomarkers and novel therapeutic strategies in AD.
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Study details
- Participants45
- Effect size3.76%; 1.46%; 3.45%
- Evidence strengthModerate
How this study scored 55/100
Published in a peer-reviewed journal. Scored zero for study design 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 and multi-centre collaboration, so those were left out: it earned 32 of the 58 points we could judge it on, which is 55 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Clinical epigenetics) |
| 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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 1 / 4 | 45 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| 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 | — / 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 31775875) |
| Free to read | 2 / 2 | Free to read |
| Points | 32 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 32 of the 58 points we could judge it on is 55 out of 100. |
| Total | 55 / 100 | — |
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