Contribution of genetic markers to cerebral venous thrombosis risk among Tunisian patients: A case-control study.
- 1Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia.
- 2Laboratory of Neurogenetics, Parkinson's Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, Sfax, Tunisia.
- 3Laboratory of Hematology, Habib Bourguiba University Hospital, Sfax, Tunisia.
Abstract
Cerebral venous thrombosis (CVT) is a rare multifactorial disease which has been associated with inherited thrombophilic factors. The present study was performed to assess the association of genetic markers such as factor V of Leiden (FVL), methylenotetrahydrofolate reductase (MTHFR), Plasminogen Activator Inhibitor-1 (PAI-1) and thrombin activatable fibrinolysis inhibitor (TAFI) polymorphisms and underlying conditions as risk factors for CVT in Tunisian patients. Fifty-two patients with radiologically confirmed CVT and 60 age- and sex-matched healthy controls were enrolled in the study. The DNAs of both groups were tested. We found that the frequency of 4G/4G of PAI-1 gene was higher among CVT group in comparison to controls (p < 0.001) and significantly associated with CVT of undetermined origin (p < 0.001). Heterozygous and homozygous models of C1040T -TAFI genotypes were associated with an increased risk of CVT compared to controls (p = 0.01; OR 6.6 and 9.15 respectively) as well as homozygous mutation of the PAI gene (p < 0.001; OR = 12.32). The risk of CVT was relevant in the presence of combined mutant genotypes of MTHFR (CT)/ PAI-1 (4G4G) and PAI-1 (4G4G)/ TAFI (CT) mutations (P = 0.035; OR: 10.68 and 13.19 respectively). This is the first case-control study from Tunisia establishing PAI-1 4G/4G and C1040T-TAFI variants as a strong risk factor for CVT in comparison to healthy controls as well as combined mutant genotypes of MTHFR, PAI-1and TAFI, so they should be included in laboratory testing panel of thrombophilia. Knowing the subset of patients carrying these genetic thrombophilia markers enables physicians to take appropriate measures to prevent future CVT recurrence.
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BibTeX
@article{moalla2026contribution,
title = {{Contribution of genetic markers to cerebral venous thrombosis risk among Tunisian patients: A case-control study.}},
author = {Khadija Moalla and Emna Smaoui and Salma Sakka and Fatma Megdiche and Nadia Bouattour and Ikhlas Belhassen and Rim Smaoui and Choumous Kallel and Mariem Damak},
journal = {ENeurologicalSci},
year = {2026},
month = oct,
doi = {10.1016/j.ensci.2026.100625},
url = {https://europepmc.org/article/MED/42926734},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Contribution of genetic markers to cerebral venous thrombosis risk among Tunisian patients: A case-control study.
AU - Khadija Moalla
AU - Emna Smaoui
AU - Salma Sakka
AU - Fatma Megdiche
AU - Nadia Bouattour
AU - Ikhlas Belhassen
AU - Rim Smaoui
AU - Choumous Kallel
AU - Mariem Damak
PY - 2026
DA - 2026/10/01
JO - ENeurologicalSci
DO - 10.1016/j.ensci.2026.100625
UR - https://europepmc.org/article/MED/42926734
AB - Cerebral venous thrombosis (CVT) is a rare multifactorial disease which has been associated with inherited thrombophilic factors. The present study was performed to assess the association of genetic markers such as factor V of Leiden (FVL), methylenotetrahydrofolate reductase (MTHFR), Plasminogen Activator Inhibitor-1 (PAI-1) and thrombin activatable fibrinolysis inhibitor (TAFI) polymorphisms and underlying conditions as risk factors for CVT in Tunisian patients. Fifty-two patients with radiologically confirmed CVT and 60 age- and sex-matched healthy controls were enrolled in the study. The DNAs of both groups were tested. We found that the frequency of 4G/4G of PAI-1 gene was higher among CVT group in comparison to controls (p < 0.001) and significantly associated with CVT of undetermined origin (p < 0.001). Heterozygous and homozygous models of C1040T -TAFI genotypes were associated with an increased risk of CVT compared to controls (p = 0.01; OR 6.6 and 9.15 respectively) as well as homozygous mutation of the PAI gene (p < 0.001; OR = 12.32). The risk of CVT was relevant in the presence of combined mutant genotypes of MTHFR (CT)/ PAI-1 (4G4G) and PAI-1 (4G4G)/ TAFI (CT) mutations (P = 0.035; OR: 10.68 and 13.19 respectively). This is the first case-control study from Tunisia establishing PAI-1 4G/4G and C1040T-TAFI variants as a strong risk factor for CVT in comparison to healthy controls as well as combined mutant genotypes of MTHFR, PAI-1and TAFI, so they should be included in laboratory testing panel of thrombophilia. Knowing the subset of patients carrying these genetic thrombophilia markers enables physicians to take appropriate measures to prevent future CVT recurrence.
SN - 2405-6502
ER -