Association of Common Single Nucleotide Polymorphisms within Inherited Thrombophilia with Recurrent Pregnancy Loss in the Female Population of Iran: A Narrative Review

Document Type : Review Article

Authors

1 Department of Midwifery, School of Nursing and Midwifery, Ardabil University of Medical Sciences, Ardabil, Iran

2 Department of Medical Genetics and Pathology, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran

10.22038/ijogi.2025.89944.6507

Abstract

Introduction: Recurrent pregnancy loss is defined as at least two pregnancy losses up to 20 weeks of pregnancy. Various genetic, immunologic, and anatomic etiologies lead to recurrent pregnancy loss; however, 50% of them remain idiopathic. The role of different inherited thrombophilia polymorphisms as one of the effective factors in recurrent pregnancy loss still remains unclear.

Methods: By using keywords including “Thrombophilia,” “Recurrent pregnancy loss,” “Recurrent miscarriage,” “Single Nucleotide Polymorphism,” “MTHFR polymorphism,” “Prothrombin G20210A,” “PAI-1 polymorphism,” “Factor XIII V34L,” and “Iran,” all articles in English or Persian investigating the association between common single nucleotide polymorphisms within inherited thrombophilia and recurrent pregnancy loss in Iran from 2008 to 2025 were involved in the study.

Results: In the initial search, 788 results were found. Following the screening based on the titles, abstracts, and full texts according to the inclusion and exclusion criteria, 23 articles remained for the data extraction and article writing stage. The results showed that while there was no consistent evidence for FVL G1691A and FII G20210A polymorphisms in the Iranian population, MTHFR and PAI-1 4G/4G gene polymorphisms were more consistently associated with an increased risk of recurrent miscarriage in the Iranian population in multiple studies.

Conclusion: This review highlights the need for larger studies in different genetic populations as well as meta-analysis studies to reach definitive results and determine more accurate assessment recommendations for couples with recurrent miscarriage in the clinic.

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