Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction

Area of Science:

• Genetics
• Cardiovascular Research
• Neurology

Background:

• Atherothrombotic cerebral infarction (ACI) is a significant cause of morbidity and mortality.
• Genetic predispositions, including prothrombotic gene polymorphisms, are investigated as potential risk factors for ACI.
• The role of specific gene variants in the Slovene population remains to be fully elucidated.

Purpose of the Study:

• To investigate the association between specific prothrombotic gene polymorphisms and the risk of ACI in the Slovene population.
• To test the hypothesis that certain genotypes of PAI-1, factor V, and factor VII are risk factors for ACI.
• To determine if the 4G/5G PAI-1, 1691G-A factor V, or Arg/Gln353 factor VII gene polymorphisms influence ACI risk.

Main Methods:

• A case-control study comparing 96 Slovene patients with ACI to 115 healthy controls.
• Genotyping for the insertion/deletion 4G/5G PAI-1 gene polymorphism using polymerase chain reaction (PCR).
• Genotyping for the 1691G-A factor V point mutation and the Arg353-to-Gln factor VII gene polymorphism using PCR.

Main Results:

• The 4G/4G genotype of the 4G5G PAI-1 gene polymorphism was significantly less frequent in ACI patients (21.9%) compared to controls (35.6%), suggesting a protective effect (OR = 0.5).
• No statistically significant association was found between the 1691G-A factor V point mutation and the risk of ACI.
• The RR genotype of the factor VII Arg/Gln353 gene polymorphism was not associated with an increased risk of ACI.

Conclusions:

• The 4G/4G genotype of PAI-1 may act as a protective factor against atherothrombotic cerebral infarction.
• The studied factor V (1691G-A) and factor VII (Arg/Gln353) gene polymorphisms do not appear to be significant risk factors for ACI in the Slovene population.
• Further research may be warranted to explore other genetic and environmental factors contributing to ACI risk.