Comparison between thrombophilic gene polymorphisms among high risk patients

Area of Science:

• Genetics
• Reproductive Medicine
• Vascular Medicine

Background:

• Thrombophilic variants are implicated in vascular disorders and recurrent pregnancy loss.
• Understanding the role of specific genetic polymorphisms is crucial for risk assessment.

Purpose of the Study:

• To compare the prevalence of thrombophilic variants in patients with vascular disorders versus those with recurrent pregnancy loss.
• To evaluate the association of Factor V Leiden, Factor II, PAI, and MTHFR polymorphisms with these conditions.

Main Methods:

• Genotyping of 200 high-risk patients (76 vascular disorders, 124 recurrent miscarriage) using RT-PCR.
• Analysis included Factor V Leiden G1691A, Factor II G20210A, PAI 4G/5G, and MTHFR C677T polymorphisms.
• Comparison of genotype frequencies with expected Hardy-Weinberg equilibrium.

Main Results:

• Factor V Leiden variant was significantly more frequent in patients with vascular disorders compared to those with recurrent miscarriage.
• No significant difference was observed for Factor II, PAI, or MTHFR polymorphisms between the groups.
• Homozygous Factor V and Factor II genotypes were more common than expected in both patient groups.

Conclusions:

• Factor V Leiden is a primary risk factor for vascular disorders and recurrent pregnancy loss.
• Screening for Factor V Leiden is advised for patients presenting with thrombotic events or recurrent miscarriage.
• The clinical significance of Factor II, PAI, and MTHFR polymorphisms in these conditions requires further investigation.