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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Factor V Leiden, prothrombin, MTHFR, and PAI-1 gene polymorphisms in patients with arterial disease: A comprehensive

Emanuele Valeriani1, Daniele Pastori2, Giulia Astorri2

  • 1Department of General Surgery and Surgical Specialty, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy; Department of Infectious Disease, Umberto I Hospital, Viale del Policlinico 155, Rome, Italy.

Thrombosis Research
|August 29, 2023
PubMed

Insights

Inherited thrombophilia, genetic predispositions to blood clots, is more common in patients with arterial diseases like stroke, heart attack, and peripheral artery disease. Testing may be beneficial for certain patient groups.

Area of Science:

  • Cardiovascular Genetics
  • Thrombosis Research
  • Molecular Epidemiology

Background:

  • The association between inherited thrombophilia and arterial diseases remains unclear.
  • This study systematically reviewed and meta-analyzed the prevalence of inherited thrombophilia in patients with cerebrovascular disease (CVD), coronary heart disease (CHD), and peripheral artery disease (PAD).

Purpose of the Study:

  • To determine the pooled prevalence and odds ratios of specific inherited thrombophilia gene polymorphisms in patients with CVD, CHD, and PAD.
  • To identify potential associations between inherited thrombophilia and arterial disease risk.

Main Methods:

  • A systematic review and meta-analysis of studies published up to February 2022.
  • Searched MEDLINE and EMBASE databases.
  • Evaluated Factor V Leiden (G1691A), prothrombin (G20210A), MTHFR (C677T/A1298C), and PAI-1 (4G/5G) gene polymorphisms.
  • Calculated pooled prevalences (PPs) and odds ratios (ORs) using a random-effects model.

Main Results:

  • Included 377 studies with 98,186 patients and 108,569 controls.
  • Found increased pooled prevalences of thrombophilia in patients across CVD, CHD, and PAD compared to controls.
  • Identified significant odds ratios for certain polymorphisms, particularly homozygous Factor V Leiden (G1691A) and prothrombin (G20210A) in CVD, and PAI-1 4G/4G in PAD.
  • Observed variations in prevalence and odds ratios based on age and geographic region.

Conclusions:

  • Patients with arterial diseases exhibit a higher prevalence and odds of certain inherited thrombophilias.
  • Consideration of thrombophilia testing may be warranted for specific patient subgroups, especially those with a strong family history or from regions with higher prevalence.
Abstract

Keywords:
Cerebrovascular disorderCoronary artery diseaseGenetic polymorphismsPeripheral arterial diseaseThrombophilia

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