Association between thrombophilic gene variants and thrombosis in the Iranian population: a systematic review and meta-analysis

Thrombophilia is influenced by genetic variants, such as Factor V Leiden (FVL) and the prothrombin G20210A mutation. In clinical settings, assessing numerous genetic factors can lead to diagnostic errors and unnecessary treatments. This meta-analysis examines gene variants associated with thrombosis in the Iranian population, where their role in thrombotic disorders remains underexplored. A systematic literature search was performed across PubMed, Scopus, and Web of Science, targeting case-control studies published up to July 2025. Studies were included if they evaluated thrombophilia-related polymorphisms in Iranian patients with various thrombotic conditions, such as recurrent pregnancy loss (RPL), venous thromboembolism (VTE), or deep vein thrombosis (DVT). Advanced statistical analyses, including random-effects models, fixed-effects models, and Bayesian meta-analysis, were used to compute odds ratios (ORs) and 95% confidence intervals (CIs). From 36 studies encompassing over 14 000 participants, significant associations emerged. For RPL, FVL G1691A heterozygote (OR: 1.998, 95% CI: 1.02-3.88), methylenetetrahydrofolate reductase (MTHFR) C677T heterozygote (OR: 1.77, 95% CI: 1.31-2.39), MTHFR A1298C heterozygote (OR: 3.10, 95% CI: 1.33-7.20) and homozygote (OR: 1.69, 95% CI: 1.05-2.70), prothrombin G20210A heterozygote (OR: 2.435, 95% CI: 1.09-5.39) and homozygote (OR: 0.487, 95% CI: 0.40-0.58), plasminogen activator inhibitor-1 (PAI-1) polymorphisms, factor V (FV) A4070G, FV 5279A/G, factor XIII (FXIII) Val34Leu, and integrin subunit beta-3 (ITGB3)1565T/C were linked to elevated RPL risk. Additionally, FVL G1691A heterozygote (OR: 5.25, 95% CI: 2.39-11.54) was associated with higher VTE risk, while MTHFR C677T heterozygote (OR: 1.404, 95% CI: 1.030-1.914) increased DVT risk. These ethnicity-specific findings highlight critical genetic risk factors for thrombotic disorders in Iranians, potentially guiding precise diagnostics and personalized interventions.

Abstract sourced from PubMed (NCBI) for the cited record. See the original publication for the authoritative version.

Thrombophilia is influenced by genetic variants, such as Factor V Leiden (FVL) and the prothrombin G20210A mutation. In clinical settings, assessing numerous genetic factors can lead to diagnostic errors and unnecessary treatments.

Explore cómo esta investigación se conecta con la práctica clínica

More peer-reviewed studies in Ensayos clínicos.

• Leech Therapy for Knee Osteoarthritis — The Landmark RCT — Michalsen et al. (2003)
• Leech-Assisted Flap Salvage — Systematic Review of 277 Cases — Whitaker et al. (2012)
• Effects of hirudotherapy on liver functions, lipid profile, and insulin sensitivity in rats with metabolic syndrome — Bilden A et al. (2026)
• HIRUDOTHERAPY IN PRESBYACUZIS PRAECOX IN CLEAN-UP WORKERS AFTER THE CHORNOBYL ACCIDENT DURING THE POST-CATASTROPHE YEARS — Zabolotnyi D, Mishchanchuk N (2019)
• Wound healing potential of bark paste of Pongamia pinnata along with hirudotherapy: A case report — Balasooriya D, Karunarathna C, Uluwaduge I (2021)
• AIF-1 and RNASET2 Play Complementary Roles in the Innate Immune Response of Medicinal Leech — Baranzini N et al. (2019)
• Study on the effect of medicinal leech therapy (Hirudo medicinalis) on full-thickness excisional wound healing in the animal model — Zakian A et al. (2022)
• [Hirudo medicinalis-leech applications in plastic and reconstructive microsurgery--a literature review] — Knobloch K et al. (2007)
• The duration of rest and feeding greatly affects the re-breeding of ectoparasites: Hirudo verbana, Hirudo medicinalis and Hirudo orientalis — Aminov R, Frolov A, Aminova A (2022)
• Recombinant hirudin in clinical practice: focus on lepirudin — Greinacher A, Lubenow N (2001)

Browse all ASH-analysed research →