Prevalence of Three Prothrombotic Genes Polymorphisms: Factor II, Factor V and MTHFR in Referred Population of Gujarat

Aim: To study the prevalence of major mutations associated with Venous thromboembolism (VTE) in referred individuals at Gujarat.

Place and Duration of Study: PanGenomics International, Sterling Accuris Diagnostics, Ahmedabad, Gujarat, India between June 2020 to December 2021.

Methodology: 121 individuals referred for thrombosis genetic test were included in the study. Among 121 subjects, 71 were male and 50 were female. SNP genotyping was performed with melt curve analysis and confirmed with sanger sequencing.

Results: Highest prevalent SNP was of MTHFR A1298C with allelic frequency of 36.78%. Factor V and MTHFR SNP allelic frequency was comparable to previous studies. Absence of Factor II mutant allele in the studied population was inconsistent with the population from other countries but supports previous studies with Indian population. Minor allele frequency for MTHFR A1298C mutation was high as 36.78% and C677T mutation was 13.22%. Factor V Leiden R506Q allele frequency was 2.89% and H1299R allele frequency was 9.50%.

Conclusion: Among various surveys conducted throughout the world, considerable variation in prevalence of Factor II, Factor V and MTHFR gene mutations have been found. The mutations studied here are major risk factors for thrombosis. Population-based prevalence study of these mutations may help in reflecting the burden of disease in studied population.