Author/Authors :
Soltanpour, Mohammad Soleiman zanjan university of medical sciences - School of Paramedical Sciences - Department of Laboratory Sciences, ايران , Soheili, Zahra iran university of medical sciences - Faculty of Medical Sciences, National Research Centre for Genetic Engineering and Biotechnology - Department of Molecular Genetics, ايران , Shakerizadeh, Ali iran university of medical sciences - Faculty of Medical Sciences - Department of Medical Physics, ايران , Pourfathollah, Ali Akbar tarbiat modares university - Faculty of Medical Sciences - Department of Immunology, تهران, ايران , Samiei, Shahram Iranian Blood Transfusion Organization - Department of Biochemistry, ايران , Meshkani, Reza tehran university of medical sciences tums - Faculty of Medicine - Department of Biochemistry, تهران, ايران , Shahjahani, Mohammad tarbiat modares university - Faculty of Medical Sciences - Department of Hematology, تهران, ايران , Karimi, Abbas tehran university of medical sciences tums - School of Advanced Medical Technologies - Department of Molecular Medicine, تهران, ايران
Abstract :
Background: Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease. Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may contribute to retinal vein thrombosis (RVT) development. The aim of the present study was to investigate whether the hyperhomocysteinemia and/or homozygosity for the MTHFR C677T mutation are associated with an increased risk for RVT. Materials and Methods: Our study population consisted of 73 consecutive patients (50‑78 years old) with RVT and 73 control subjects (51‑80 years old), matched for age and sex. Genotyping for the MTHFR C677T mutation was performed by polymerase chain reaction‑restriction fragment length polymorphism technique and Hcy level was determined by an enzyme immunoassay kit. Results: The prevalence of 677TT genotype was higher in patients than control subjects, but the difference in frequency didn’t reach a significant value (P = 0.07). The frequency of the 677T allele was 26% and 21.2% in patients and controls, respectively and did not differ significantly between the two groups (odds ratio = 1.3, 95% confidence interval (0.75‑2.24), P = 0.33). Fasting plasma total Hcy level was significantly higher in patients than controls (P = 0.001). Conclusion: Our study demonstrated that hyperhomocysteinemia, but not the MTHFR C677T mutation, is associated with RVT.
Keywords :
Methylenetetrahydrofolate reductase , mutation , polymerase chain reaction‑restriction fragment length polymorphism , retinal vein thrombosis , thrombophilia
