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Genetic Characterization of MAPT Exon 6 Variants in Indonesian Patients with Vascular Dementia: A Cross-Sectional Sequencing Study
Rosandi R, Fitrah YA, Soraya GV, Jannah AR, Maricar N, Muis A, Budisasmita F, Hara N et al.. F1000Res, 2026-09-10
Topic: Genetics and APOE
Background The microtubule-associated protein tau (MAPT) gene plays a critical role in neuronal microtubule stabilization and has been widely implicated in neurodegenerative disorders, including vascular dementia. However, the molecular characterization of MAPT gene variants in patients with vascular dementia remains limited, particularly in Southeast Asian populations. This study aims to characterize MAPT gene variants in Indonesian patients with vascular dementia by screening selected coding exons using direct Sanger sequencing. Methods This cross-sectional sequencing study included 17 patients with clinically diagnosed vascular dementia. Genomic DNA extracted from peripheral blood was used to screen selected coding exons of the MAPT gene by direct Sanger sequencing. The identified variants were characterized by their genotype and allele frequencies, and individual clinical characteristics were descriptively presented according to genotype. Results Three sequence variants were identified by screening selected coding exons of the MAPT gene, including rs63750222 (exon 4A), rs2258689 (exon 6), and c.1617G > A (exon 9). Among these, rs2258689 was the only variant that exhibited polymorphism within the study population. The C/C genotype was the most frequent (58.8%), followed by T/C (29.4%) and T/T (11.8%), while the C allele predominated (73.5%) over the T allele (26.5%). Individual distributions of age, MoCA-Ina, and CDR-SB scores demonstrated substantial variability across genotype groups. Conclusion This study provides the first molecular characterization of MAPT gene variants in Indonesian patients with vascular dementia. The identification of rs2258689 as the only polymorphic variant establishes baseline molecular data for future genetic and functional studies.
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APA 7th
Rosandi, R., Fitrah, Y. A., Soraya, G. V., Jannah, A. R., Maricar, N., Muis, A., et al. (2026). Genetic Characterization of MAPT Exon 6 Variants in Indonesian Patients with Vascular Dementia: A Cross-Sectional Sequencing Study. F1000Res. https://doi.org/10.12688/f1000research.188725.1
Vancouver
Rosandi R, Fitrah YA, Soraya GV, Jannah AR, Maricar N, Muis A, et al. Genetic Characterization of MAPT Exon 6 Variants in Indonesian Patients with Vascular Dementia: A Cross-Sectional Sequencing Study. F1000Res. 2026. doi:10.12688/f1000research.188725.1.
BibTeX
@article{rosandi2026-a5a31d3b,
author = {Rosandi, R. and Fitrah, Y. A. and Soraya, G. V. and Jannah, A. R. and Maricar, N. and Muis, A. and Budisasmita, F. and Hara, N. and others},
title = {{Genetic Characterization of MAPT Exon 6 Variants in Indonesian Patients with Vascular Dementia: A Cross-Sectional Sequencing Study}},
journal = {F1000Res},
year = {2026},
doi = {10.12688/f1000research.188725.1},
url = {https://doi.org/10.12688/f1000research.188725.1}
}
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Key findings
- Results Three sequence variants were identified by screening selected coding exons of the MAPT gene, including rs63750222 (exon 4A), rs2258689 (exon 6), and c.1617G > A (exon 9).
- Individual distributions of age, MoCA-Ina, and CDR-SB scores demonstrated substantial variability across genotype groups.
Study details
- Study designcross-sectional
- Participants17
- Effect size58.8%; 29.4%; 11.8%
- Evidence strengthLow
How this study scored 59/100
Published in a peer-reviewed journal, and it is a snapshot of people at one point in time. Scored zero for 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 34 of the 58 points we could judge it on, which is 59 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (F1000Res) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 4 / 12 | A snapshot of people at one point in time |
| 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 | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 1 / 4 | 17 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 | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 34 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 34 of the 58 points we could judge it on is 59 out of 100. |
| Total | 59 / 100 | — |
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