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The Association of Thrombophilic and Cardiovascular Genetic Variations with Neurovascular and Neurodegenerative Diseases: A Multivariate Genetic and Clinical Analysis
Yücel Z, Yüksel EB.. Preprints.org, 2026-08-31
Topic: Genetics and APOE
Plain-language summary
MTHFR C677T homozygosity was independently associated with vascular dementia (OR 3.2; 95% CI 1.1–8.9; p=0.027) and showed clustering with cognitive impairment. Factor V Leiden (OR 2.6; 95% CI 1.1–6.3; p=0.031) and Prothrombin G20210A carriage (OR 2.1; 95% CI 1.0–4.2; p=0.049) were independently associated with stroke and thrombotic events. Individuals carrying multiple mutations demonstrated higher rates of stroke (up to 40%), thrombosis (up to 40%), and cognitive impairment compared with single-mutation carriers or genetically negative individuals, supporting a cumulative polygenic risk effect. Biochemical correlations were concordant with genotype–phenotype patterns, including elevated homocysteine levels among MTHFR carriers and increased fibrinogen tendency among β-fibrinogen polymorphism carriers. Thrombophilic and cardiovascular genetic variants are associated not only with classical thrombotic phenotypes but also with neurovascular and cognitive outcomes.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Yücel, Z., & Yüksel, E. B. (2026). The Association of Thrombophilic and Cardiovascular Genetic Variations with Neurovascular and Neurodegenerative Diseases: A Multivariate Genetic and Clinical Analysis. Preprints.org. https://doi.org/10.20944/preprints202608.2252.v1
Vancouver
Yücel Z, Yüksel EB. The Association of Thrombophilic and Cardiovascular Genetic Variations with Neurovascular and Neurodegenerative Diseases: A Multivariate Genetic and Clinical Analysis. Preprints.org. 2026. doi:10.20944/preprints202608.2252.v1.
BibTeX
@article{yucel2026-593f07c9,
author = {Yücel, Z. and Yüksel, E. B.},
title = {{The Association of Thrombophilic and Cardiovascular Genetic Variations with Neurovascular and Neurodegenerative Diseases: A Multivariate Genetic and Clinical Analysis}},
journal = {Preprints.org},
year = {2026},
doi = {10.20944/preprints202608.2252.v1},
url = {https://doi.org/10.20944/preprints202608.2252.v1}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- MTHFR C677T homozygosity was independently associated with vascular dementia (OR 3.2; 95% CI 1.1–8.9; p=0.027) and showed clustering with cognitive impairment.
- Factor V Leiden (OR 2.6; 95% CI 1.1–6.3; p=0.031) and Prothrombin G20210A carriage (OR 2.1; 95% CI 1.0–4.2; p=0.049) were independently associated with stroke and thrombotic events.
- Individuals carrying multiple mutations demonstrated higher rates of stroke (up to 40%), thrombosis (up to 40%), and cognitive impairment compared with single-mutation carriers or genetically negative individuals, supporting a cumulative polygenic risk effect.
- Biochemical correlations were concordant with genotype–phenotype patterns, including elevated homocysteine levels among MTHFR carriers and increased fibrinogen tendency among β-fibrinogen polymorphism carriers.
- Thrombophilic and cardiovascular genetic variants are associated not only with classical thrombotic phenotypes but also with neurovascular and cognitive outcomes.
Study details
- Effect sizeOR 3.2; OR 2.6; OR 2.1
- Evidence strengthLow
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 26 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. Scored zero for study design, sample size, studied in people and randomized / blinded because the record does not state it. We have no data on 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 multicenter collaboration, so those were left out: it earned 16 of the 62 points we could judge it on, which is 26 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (Preprints.org) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| 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 | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 5 / 5 | 2026 — within 1 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 | 3 / 3 | Effect reported with a statistic (interval, p-value, ratio or similar) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomized / blinded | 0 / 2 | No randomization 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 |
| Multicenter 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 | 16 / 62 | Scored on 12 of 20 parts. We have no data for the rest, so they are left out: 16 of the 62 points we could judge it on is 26 out of 100. |
| Total | 26 / 100 | Capped to 16 because this is not a peer-reviewed article. |
What each of these 20 components measures, and what this score is not →
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