The importance of MTHFR C677T/A1298C combined polymorphisms in pulmonary embolism in Turkish population

Background and objective

Pulmonary embolism (PE) is an important cardiovascular emergency with high mortality. There are still problems on diagnosis stage of PE and genetic researches may play a key role on diagnosis as well as determining risk stratification. In the present study, it is aimed to evaluate MTHFR C677T and A1298C polymorphisms that play role on folate metabolism in PE patients.

Methods

One hundred and eighteen PE patients and one hundred and twenty-six controls were enrolled in the current study. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) analyses for the MTHFR C677T and A1298C polymorphisms.

Results

There was no association between clinical and demographic characteristics of PE patients and both MTHFR C677T and A1298C polymorphisms. Allele frequencies showed a significant difference between patients and controls. T allele frequency was significantly higher in patient group than control group. It was found that there was an association between PE and combined MTHFR C677T and A1298C polymorphisms.

Conclusion

We found an association between MTHFR C677T/A1298C combined mutations and PE in Turkish population. Future genetic researches include combined mutations could be very helpful to identify risk population in PE.