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

Abstract

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

Materials and methods: A total of 118 PE patients and 126 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 the patients' group than the control group. 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 the Turkish population. Future genetic studies investigating combined mutations could be very helpful to identify risk population in PE.

Keywords: A 1298C; C677T; MTHFR; Polymorphism; Pulmonary embolism.