TITLE:
Common Prothrombotic Gene Mutations in Cerebral Venous Sinus Thrombosis in North-West of Iran
AUTHORS:
Elyar Sadeghi-Hokmabadi, Ebrahim Sakhinia, Mehdi Farhoudi, Somayyeh Hasaneh, Morteza Ghojazadeh, Mohammad Amin Farzi, Sasan Andalib, Masoumeh Nemati, Omid Abbaszadeh, Reza Rikhtegar, Reshad Mirnour
KEYWORDS:
Gene, Mutation, Cerebral Venous Sinus Thrombosis, Thrombophilia
JOURNAL NAME:
Neuroscience and Medicine,
Vol.8 No.4,
December
4,
2017
ABSTRACT: Objective: Cerebral venous sinus thrombosis (CVST) is a life-threatening cerebrovascular disease which has high prevalence and mortality rate in Iran. Thrombophilia caused by gene mutation is a common cause of CVST. The present study aimed at assessing the prevalence of thrombophilic gene mutations in Iranian CVST patients and then comparing it with normal population. Materials and methods: In a case-control study, polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) and amplification-refractory mutation system (ARMS-PCR) were carried out to detect common thrombophilic mutations in 70 CVST patients. Next, it was compared with 82 sex- and age-matched healthy controls. Results: Factor-V-Leiden, Factor-V-Leiden HR2, Factor prothrombin II, MTHFR (667C/T) and MTHFR (1298A/C) prevalence were significantly high in cases of CVST as compared to the controls (P values: 0.012, 0.019, 0.007 and 0.036, respectively). However, there was no significant difference between the two groups in plasminogen activator inhibitor (PAI), angiotensin-converting enzyme (ACE), beta-fibrinogen (FGB), Factor VIII, Factor XIII, and tissue plasminogen activator (tPA) mutations. Conclusion: The findings of the present study suggest that Factor V-Leiden, Factor-V-Leiden HR2, prothrombin II (G20210A), and MTHFR (667C/T & 1298A/C) mutations are more frequent in CVST. Detection of these mutations may help clinicians to decide on the duration of treatment and referral to genetic counseling for valuable prevention.