Thrombophilia-Related Gene Polymorphisms and Recurrent Miscarriages in Lebanese Population: A Case-Control Study.
9 affiliations
- 1Biomedical Science Department School of Arts and Sciences Lebanese International University Tyre Campus Tyre Lebanon liu.edu.lb.
- 2Nutrition and Food Technology Department School of Arts and Sciences Lebanese International University Nabatieh Campus Nabatieh Lebanon liu.edu.lb.
- 3Faculty of Public and Health Sciences Islamic University of Lebanon Tyre Lebanon iul.edu.lb.
- 4Medical Research Center Faculty of Medical Sciences Lebanese University Beirut Lebanon ul.edu.lb.
- 5INSPECT-LB Institut National de Santé Publique Epidémiologie Clinique Et Toxicologie-Liban Beirut Lebanon.
- 6Anesthesia and Reanimation Department Hospital Pierre Wertheimer Hospices Civils de Lyon Lyon France chu-lyon.fr.
- 7Obstetrics and Gynecology Department Bahman Hospital Beirut Lebanon.
- 8Department of Pharmaceutical Sciences School of Pharmacy Lebanese American University Beirut Lebanon lau.edu.lb.
- 9Nephrology Department Rafik Hariri University Hospital Beirut Lebanon hcu.edu.lb.
Abstract
Background
Genes associated with cardiovascular diseases are strongly linked to idiopathic recurrent pregnancy loss. Because these genetic mutations often involve coagulation factors, anticoagulant therapy, particularly low-molecular-weight heparin, is increasingly encountered in obstetric practice in Lebanon for selected maternal and pregnancy-related indications. However, data describing the prevalence and prescribing patterns of anticoagulant use among Lebanese obstetricians remain limited. In this multicenter retrospective case-control study, 12 mutations within 10 CVD-related genes in Lebanese women with a history of recurrent pregnancy loss were assessed to uncover further potential genetic links between these two conditions.Methods
Data were collected from a total of 117 women with recurrent pregnancy loss (≥ 2 pregnancy losses with the same partner before the 22nd week of gestation) and 38 women with a history of at least one successful pregnancy. Data were collected from two independent medical centers in Lebanon, Abou Jaoude Hospital and the Lebanese Diagnostic Medical Center, through medical-record review and participant interviews. Twelve mutations were covered employing polymerase chain reaction and reverse-hybridization techniques. Because of the variation in genotyping completeness across assays, the effective sample size for individual polymorphisms ranged from 27 to 38 controls and 78 to 117 cases.Results
Genetic analysis revealed a significant association between Factor V Leiden (OR = 0.31; p = 0.017), Factor XIII: V34L (OR = 0.3; p = 0.009), plasminogen activator inhibitor-1: 4G/5G (OR = 0.3; p = 0.034), and lower odds of recurrent pregnancy loss. However, these associations did not remain significant after correction for multiple testing and should therefore be considered exploratory. No significant associations were observed for other evaluated polymorphisms, including methylenetetrahydrofolate reductase C677T and A1298C.Conclusion
Repeated pregnancy loss is multifaceted and not necessarily linked to coagulopathy-related mutations; in the Lebanese population, certain polymorphisms showed nominal associations with lower odds of recurrent pregnancy loss that require confirmation in larger, independent studies, and no statistically significant association was observed between methylenetetrahydrofolate reductase mutations and recurrent pregnancy loss in the present study. These findings suggest that the routine presumption of a thrombophilic etiology in recurrent pregnancy loss may not be universally applicable. Future research should prioritize validating these genetic associations in larger, adequately powered cohorts and exploring the underlying biological mechanisms before any therapeutic implications are considered.
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BibTeX
@article{sharifaskari2026thrombophiliarelated,
title = {{Thrombophilia-Related Gene Polymorphisms and Recurrent Miscarriages in Lebanese Population: A Case-Control Study.}},
author = {Ehssan Sharif-Askari and Khadija Atoui and Ola Srour and Linda Abou-Abbas and Mazen Fakih and Lamis Abou-Abbas and Zeinab Bazzi and Aline Milane and Antoine Barbari},
journal = {Human mutation},
year = {2026},
month = oct,
doi = {10.1155/humu/5923585},
url = {https://europepmc.org/article/MED/42959401},
note = {CC BY},
}
RIS
TY - JOUR
TI - Thrombophilia-Related Gene Polymorphisms and Recurrent Miscarriages in Lebanese Population: A Case-Control Study.
AU - Ehssan Sharif-Askari
AU - Khadija Atoui
AU - Ola Srour
AU - Linda Abou-Abbas
AU - Mazen Fakih
AU - Lamis Abou-Abbas
AU - Zeinab Bazzi
AU - Aline Milane
AU - Antoine Barbari
PY - 2026
DA - 2026/10/28
JO - Human mutation
DO - 10.1155/humu/5923585
UR - https://europepmc.org/article/MED/42959401
AB - Background Genes associated with cardiovascular diseases are strongly linked to idiopathic recurrent pregnancy loss. Because these genetic mutations often involve coagulation factors, anticoagulant therapy, particularly low-molecular-weight heparin, is increasingly encountered in obstetric practice in Lebanon for selected maternal and pregnancy-related indications. However, data describing the prevalence and prescribing patterns of anticoagulant use among Lebanese obstetricians remain limited. In this multicenter retrospective case-control study, 12 mutations within 10 CVD-related genes in Lebanese women with a history of recurrent pregnancy loss were assessed to uncover further potential genetic links between these two conditions.Methods Data were collected from a total of 117 women with recurrent pregnancy loss (≥ 2 pregnancy losses with the same partner before the 22nd week of gestation) and 38 women with a history of at least one successful pregnancy. Data were collected from two independent medical centers in Lebanon, Abou Jaoude Hospital and the Lebanese Diagnostic Medical Center, through medical-record review and participant interviews. Twelve mutations were covered employing polymerase chain reaction and reverse-hybridization techniques. Because of the variation in genotyping completeness across assays, the effective sample size for individual polymorphisms ranged from 27 to 38 controls and 78 to 117 cases.Results Genetic analysis revealed a significant association between Factor V Leiden (OR = 0.31; p = 0.017), Factor XIII: V34L (OR = 0.3; p = 0.009), plasminogen activator inhibitor-1: 4G/5G (OR = 0.3; p = 0.034), and lower odds of recurrent pregnancy loss. However, these associations did not remain significant after correction for multiple testing and should therefore be considered exploratory. No significant associations were observed for other evaluated polymorphisms, including methylenetetrahydrofolate reductase C677T and A1298C.Conclusion Repeated pregnancy loss is multifaceted and not necessarily linked to coagulopathy-related mutations; in the Lebanese population, certain polymorphisms showed nominal associations with lower odds of recurrent pregnancy loss that require confirmation in larger, independent studies, and no statistically significant association was observed between methylenetetrahydrofolate reductase mutations and recurrent pregnancy loss in the present study. These findings suggest that the routine presumption of a thrombophilic etiology in recurrent pregnancy loss may not be universally applicable. Future research should prioritize validating these genetic associations in larger, adequately powered cohorts and exploring the underlying biological mechanisms before any therapeutic implications are considered.
SN - 1059-7794
SN - 1098-1004
ER -