The analyses of C677T and A1298C polymorphisms on the MTHFR gene and factor V Leiden mutation in pseudotumor cerebri patients

Abstract

Background: In this study, we aimed to investigate the genetic factors which may cause to thrombosis such as C677T and A1298C methylen-thetrahydropholate reductase (MTHFR) gene polymorphisms and Factor V Leiden mutation.

Methods: A case-control study was performed to detect C677T and A1298C MTHFR and Factor V Leiden gene polymorphisms in 30 patients which have headache and prediagnosed as pseudotumor cerebri (PC) after neurological examination and cranial magnetic resonance imaging. The intracranial pressures of the patients were measured via lumbar punction and 16 of 30 patients were diagnosed as PC and the rest 14 patients diagnosed as normal patients (control group). The C677T and A1298C polymorphisms of the MTHFR gene and Factor V Leiden polymorphisms in PC and normal patients were analyzed.

Results: The 677 CC/CT and 677 CC/TT MTHFR genotypes between the PC patients and controls were significant. However, 677 CT/TT MTHFR genotypes between the PC patients were not significant. We were not found 677 TT genotype in control groups. We compared 1298 AA/AC/CC genotype frequencies between the PC patients and controls groups, and the difference was not significant. There were no participants with AA genotype of Factor V Leiden. A significant association was not found between GA/GG of Factor V Leiden genotypes between PC patients and controls groups. (chi(2)=0.01, P=0.72).

Conclusion: We think that C677T polymorphisms of the MTHFR can be regarded as a risk factor for PC patients. However, A1298C polymorphisms of the MTHFR and factor V Leiden polymorphisms cannot be regarded as major risk factors for PC in the Turkish population.