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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Prothrombotic genetic risk factors in patients with very early ST-segment elevation myocardial infarction

Loukianos S Rallidis1, Argyri Gialeraki2, Georgios Tsirebolos3

  • 1Second Department of Cardiology, University General Hospital Attikon, 1 Rimini St., Chaidari, 12462, Athens, Greece. lrallidis@gmail.com.

Journal of Thrombosis and Thrombolysis
|June 26, 2017
PubMed

Insights

The prothrombin G20210A gene polymorphism is linked to a higher risk of premature ST-elevation myocardial infarction (STEMI), especially when combined with smoking. Other prothrombotic factors showed minimal contribution in this study.

Area of Science:

  • Cardiovascular Genetics
  • Thrombosis and Hemostasis
  • Preventive Cardiology

Background:

  • Prothrombotic genetic factors' role in premature myocardial infarction (MI) remains debated.
  • Early ST-elevation MI (STEMI) in young adults necessitates understanding contributing risk factors.
  • Genetic predispositions can influence thrombotic event risk.

Purpose of the Study:

  • To investigate the prevalence of specific prothrombotic genetic risk factors in young STEMI patients.
  • To assess the association between these factors and the risk of premature STEMI.
  • To determine the combined effect of genetic factors and smoking on STEMI risk.

Main Methods:

  • Case-control study comparing 255 young STEMI survivors (≤35 years) with 400 healthy controls.
  • Genotyping for Factor V Leiden (G1691A) and prothrombin (G20210A) gene polymorphisms.
  • Screening for deficiencies in protein C, protein S, antithrombin III, and antiphospholipid syndrome (APS).

Main Results:

  • Prothrombin G20210A polymorphism was significantly more frequent in young STEMI patients (7.4%) than controls (3.5%), OR 2.239 (95% CI 1.102-4.250).
  • Adjusted OR for STEMI associated with G20210A was 2.569 (95% CI 1.086-6.074).
  • The risk of STEMI increased 22-fold (95% CI 9.192-66.517) for G20210A carriers who also smoked.
  • Factor V Leiden, protein C/S/antithrombin III deficiencies, and APS were not significantly associated with premature STEMI in this cohort.

Conclusions:

  • Prothrombin G20210A gene polymorphism is an independent risk factor for premature STEMI.
  • Smoking significantly amplifies the STEMI risk in individuals with the prothrombin G20210A polymorphism.
  • Other common prothrombotic disorders have a minimal impact on STEMI risk in this young population.

Keywords:
Antiphospholipid syndromePremature myocardial infarctionProthrombotic risk factors

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