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January 1, 1999Pathophysiology of Haemostasis and Thrombosis

Genetic Risk Factors in Acute Coronary Disease

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Key result

HPA-1 PlA2 polymorphism linked to ~58% higher rate of acute coronary disease.

  • n=152

Why the study?

The role of specific genetic variants as risk factors for acute coronary disease in Portuguese patients was uncertain.

Are HPA-1, Factor V Leiden, prothrombin gene variant, and MTHFR mutations risk factors for acute coronary disease in Portuguese patients?

Population

52 patients with myocardial infarction or unstable angina and 100 blood donor controls in Portugal

Comparison

Presence vs absence of HPA-1, Factor V Leiden, Prothrombin 20210 variant, and MTHFR mutation

Design

Case-control study

Authors

FAFernando AraújoUniversidade do PortoASAdalberto Rezende SantosFundação Oswaldo CruzVAV. AraújoUniversidad de la República de Uruguay

Discussion

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Implication

Null findings for three variants in small Portuguese cohort leave open possible HPA-1 role in acute coronary disease; larger studies needed.

Study Design

Type

Case-Control (n=152)

Structured PICO

Are HPA-1, Factor V Leiden, prothrombin gene variant, and MTHFR mutations risk factors for acute coronary disease in Portuguese patients?

P
Population
152 Portuguese individuals, comprising 52 patients with myocardial infarction or unstable angina and 100 blood donor controls, evaluated for genetic risk factors.
E
Exposure
Presence of genetic variants (HPA-1 genotype, Factor V Leiden, Prothrombin 20210 variant, and MTHFR mutation)
C
Comparator
Absence of genetic variants (comparison between patients with acute coronary disease and healthy blood donor controls)
O
Outcome
Diagnosis of acute coronary disease (myocardial infarction or unstable angina)hard clinical

Main Result

Absolute Event Rate: 44.2% vs 28%

The PI(A2) polymorphism, but not Factor V Leiden, Prothrombin 20210, or MTHFR mutations, may be a genetic risk factor for acute coronary disease in Portuguese patients.

Limitations

  • Larger studies are needed in order to have a better insight into the pathophysiological mechanisms of this disease
  • Small sample size

Cite This Study

Araújo et al. (1999) conducted a case-control in Acute coronary disease (n=152). Acute coronary disease vs. Blood donors (controls) was evaluated on Presence of PI(A2) polymorphism. The PI(A2) polymorphism was significantly more frequent in patients with acute coronary disease compared to controls (44.2% vs 28.0%), whereas Factor V Leiden, Prothrombin 20210, and MTHFR mutations showed no difference.

synapsesocial.com/papers/6ab38531fe69993e176d64f8https://doi.org/10.1159/000022504
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Factor V Leiden (Resistance to Activated Protein C) Increases the Risk of Myocardial Infarction in Young Women1997 · 378 citations
  2. 2The Mutation Ala677→Val in the Methylene Tetrahydrofolate Reductase Gene: A Risk Factor for Arterial Disease and Venous Thrombosis1997 · 304 citations
  3. 3A Polymorphism of a Platelet Glycoprotein Receptor as an Inherited Risk Factor for Coronary Thrombosis1996 · 692 citations
  4. 4Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population1998 · 108 citations
  5. 5Polymorphism of the Platelet Glycoprotein IIIa Gene in Patients with Coronary Stenosis1998 · 38 citations