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Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes
Van Cauwenberghe C, Bettens K, Engelborghs S, Vandenbulcke M, Van Dongen J, Vermeulen S, Vandenberghe R, De Deyn PP et al.. Neurobiology of aging, 2013-04-10
Topic: Amyloid, tau and blood-test diagnosis
We previously described an intragenic functional copy number variation (CNV) in complement receptor 1 (CR1) that is associated with Alzheimer disease (AD) risk. A recent study, however, reported a rare CR1 coding variant p.Ser1610Thr (rs4844609) associated with AD susceptibility, explaining the effect of genome wide association (GWA) top single nucleotide polymorphism rs6656401. We assessed the role of the Ser1610Thr variant in AD pathogenesis and the effect on AD-related endophenotypes in a Flanders-Belgian cohort.
Key findings
- A recent study, however, reported a rare CR1 coding variant p.Ser1610Thr (rs4844609) associated with AD susceptibility, explaining the effect of genome wide association (GWA) top single nucleotide polymorphism rs6656401.
- We assessed the role of the Ser1610Thr variant in AD pathogenesis and the effect on AD-related endophenotypes in a Flanders-Belgian cohort.
- We evaluated whether this rare variant rather than the CR1 CNV could explain the association of CR1 in our population.
- The Ser1610Thr variant was not associated with AD, memory impairment, total tau, amyloid β(1-42) or tau phosphorylated at threonine 181 levels.
Why it matters
The study assessed whether the rare CR1 variant p.Ser1610Thr explains Alzheimer's risk and related traits in a Flanders-Belgian group. It is a genetic association study, so it does not provide a treatment, cure or prevention for Alzheimer's disease.
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Study details
- Evidence strengthModerate
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.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | 3 / 4 | Neurobiology of Aging: journal h-index 263 (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 | 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 | 1 / 5 | 2013 — within 20 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 | 3 / 7 | Cited 25 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.7 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 2 / 6 | Cited 2.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 5 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Kristel Sleegers: h-index 81 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | KU Leuven: institution h-index 1,386 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23582656) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 41 / 100 | — |
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Read the original
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Van Cauwenberghe, C., Bettens, K., Engelborghs, S., Vandenbulcke, M., Van Dongen, J., Vermeulen, S., et al. (2013). Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2013.03.008
Vancouver
Van Cauwenberghe C, Bettens K, Engelborghs S, Vandenbulcke M, Van Dongen J, Vermeulen S, et al. Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes. Neurobiology of aging. 2013. doi:10.1016/j.neurobiolaging.2013.03.008. PMID: 23582656.
BibTeX
@article{vancauwenberghe2013-23582656,
author = {Van Cauwenberghe, C. and Bettens, K. and Engelborghs, S. and Vandenbulcke, M. and Van Dongen, J. and Vermeulen, S. and Vandenberghe, R. and De Deyn, P. P. and others},
title = {{Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes}},
journal = {Neurobiology of aging},
year = {2013},
doi = {10.1016/j.neurobiolaging.2013.03.008},
pmid = {23582656},
url = {https://doi.org/10.1016/j.neurobiolaging.2013.03.008}
}
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