Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes

Abstract

Background: The prevalence of Coronary artery disease (CAD) in India has increased considerably over the past few years and could become the number one killer disease if interventions are not done. Factor V Leiden (FVL) mutation and FII G20210A polymorphism are two recently described genetic factors with a propensity towards venous thrombosis. This warrants the investigations for thrombophilia in myocardial infarction patients in India.

Methods: The study cohort consisted of 51 patients aged below 50 years presenting with acute coronary syndromes. In both patient group and normal individuals the major risk factors Protein C deficiency, Protein S deficiency, anticardiolipin antibodies, Fibrinogen and Lipoprotein [a] were studied. Factor V Leiden (FVL) G1691A mutation in both control and patient group was looked by using Polymerase chain reaction (PCR) followed by sequencing of the PCR products.

Results: Our results indicated significantly higher levels of anticardiolipin antibodies and fibrinogen in the patients and absence of FVL (G1691A) mutation in our study cohort. One of the patients (H5) showed insertion of an extra A nucleotide in exon 10 of the Factor V gene resulting in frame shift mutation in this patient.

Conclusion: The results of present study showed absence of FVL mutation in our population. However, there is a need to confirm the above findings on patients from different populations from different parts of the country. The insertion of an extra A in exon 10 in the patient needs to be ascertained to confirm that it is one of its kinds or is prevalent in the population.

Fig. 1

1% Agarose gel showing PCR products of Exon 10 of Factor V: 1% agarose gel showing PCR products (223bp) amplified from the isolated DNA samples. Lane M: Molecular size marker; Lanes H5, H10, H33, H36: PCR products of patients; Lane C: PCR product of control.

Fig. 2

Chromatogram of the exon 10: Chromatogram of the sequence showing mutated region compared to normal sequences. The arrow-marked region shows new mutation in the exon 10.