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Characterization of MTHFR Coding Variants in Indonesian Patients With Vascular Dementia: An Exploratory Sequencing Study
Yulianti P, Fitrah YA, Soraya GV, Jannah AR, Muis A, Tammasse J, Bahar A, Hara N et al.. F1000Res, 2026-09-09
Topic: Genetics and APOE
Background Vascular dementia (VaD) is a complex cognitive disorder resulting from the interplay of vascular and genetic elements. Methylenetetrahydrofolate reductase ( MTHFR ) variants may influence homocysteine metabolism and cerebrovascular injury, but data from Indonesian patients with VaD remain limited. This study aimed to characterize coding-region MTHFR variants in an Indonesian VaD cohort and explore differences in cognitive performance and dementia severity according to common variant carrier status. Methods This exploratory cross-sectional study included 17 patients who fulfilled the NINDS–AIREN criteria for VaD. Cognitive performance and dementia severity were assessed using the Montreal Cognitive Assessment–Indonesian Version (MoCA-INA) and the global Clinical Dementia Rating (CDR), respectively. The coding exons of MTHFR were amplified by polymerase chain reaction and analyzed using Sanger sequencing. Identified variants were annotated using standard genomic databases and in-silico prediction tools. Exploratory comparisons were performed according to rs1801133 and rs1801131 carrier status. Results Seven coding variants were identified across exons 2, 3, 5, 7, 8, and 12, comprising three synonymous and four missense variants. rs1801131 and rs1801133 were detected in 4 of 17 and 3 of 17 participants, respectively. rs4846051 was identified in all 16 participants with an evaluable sequence at that locus. No statistically significant differences in MoCA-INA or global CDR scores were observed between carriers and non-carriers of rs1801133 or rs1801131. However, estimates were imprecise because of the small carrier groups. Conclusion Multiple MTHFR coding variants were identified in this small Indonesian VaD cohort. No statistically detectable genotype–phenotype differences were observed, although the limited sample size and absence of a control group preclude conclusions regarding VaD susceptibility or clinically meaningful associations. Larger controlled studies integrating homocysteine, folate status, and standardized neuroimaging are warranted.
Key findings
- Results Seven coding variants were identified across exons 2, 3, 5, 7, 8, and 12, comprising three synonymous and four missense variants. rs1801131 and rs1801133 were detected in 4 of 17 and 3 of 17 participants, respectively. rs4846051 was identified in all 16 participants with an evaluable sequence at that locus.
- No statistically significant differences in MoCA-INA or global CDR scores were observed between carriers and non-carriers of rs1801133 or rs1801131.
Study details
- Study designcross-sectional
- Participants17
- Evidence strengthModerate
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 effect reported 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 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 | 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 | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 1 / 4 | 17 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| 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 | — |
What each of these 20 components measures, and what this score is not →
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APA 7th
Yulianti, P., Fitrah, Y. A., Soraya, G. V., Jannah, A. R., Muis, A., Tammasse, J., et al. (2026). Characterization of MTHFR Coding Variants in Indonesian Patients With Vascular Dementia: An Exploratory Sequencing Study. F1000Res. https://doi.org/10.12688/f1000research.187866.1
Vancouver
Yulianti P, Fitrah YA, Soraya GV, Jannah AR, Muis A, Tammasse J, et al. Characterization of MTHFR Coding Variants in Indonesian Patients With Vascular Dementia: An Exploratory Sequencing Study. F1000Res. 2026. doi:10.12688/f1000research.187866.1.
BibTeX
@article{yulianti2026-5c166fcb,
author = {Yulianti, P. and Fitrah, Y. A. and Soraya, G. V. and Jannah, A. R. and Muis, A. and Tammasse, J. and Bahar, A. and Hara, N. and others},
title = {{Characterization of MTHFR Coding Variants in Indonesian Patients With Vascular Dementia: An Exploratory Sequencing Study}},
journal = {F1000Res},
year = {2026},
doi = {10.12688/f1000research.187866.1},
url = {https://doi.org/10.12688/f1000research.187866.1}
}