Garakanidze Sopio, Costa Elísio, Bronze-Rocha Elsa, Santos-Silva Alice, Nikolaishvili Giorgi, Nakashidze Irina, Kakauridze Nona, Glonti Salome, Khukhunaishvili Rusudan, Koridze Marina, Ahmad Sarfraz
1 Department of Biology, Faculty of Natural Sciences & Health Care, Batumi Shota Rustaveli State University, Batumi, Georgia.
2 Research Unit on Applied Molecular Biosciences (UCIBIO), Rede de Química e Tecnologia (REQUIMTE), Faculty of Pharmacy, University of Porto, Porto, Portugal.
Clin Appl Thromb Hemost. 2018 Oct;24(7):1061-1066. doi: 10.1177/1076029618757345. Epub 2018 Feb 13.
Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56.6 ± 11.3 years). Genomic DNA was extracted from dry blood spot on Whatman filter paper. Polymerase chain reaction was performed to determine MTHFR C677T polymorphism. Frequency of C677T allele polymorphism in controls was 21.2%, which corresponded to heterozygous and homozygous stage frequencies of 35.4% and 3.5%, respectively. In patient group, an allelic frequency of 33.2% was found, which corresponded to the presence of 48.5% of heterozygous and 8.9% of homozygous individuals. Comparing the frequency of mutated alleles between the 2 groups, a significantly high frequency of mutated alleles was found in patient group ( P < .05). In conclusion, high frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients.
亚甲基四氢叶酸还原酶（MTHFR）基因多态性（C677T）是静脉血栓形成公认的遗传危险因素；然而，其与动脉血栓形成的关联仍存在争议。在此，我们评估了格鲁吉亚患者与健康个体相比MTHFR C677T多态性的患病率及其与动脉血栓形成的关联。我们招募了214名参与者：101名患有动脉血栓形成（男性占71.3%；平均年龄：66.3±12.1岁）和113名对照者（男性占67.3%；平均年龄：56.6±11.3岁）。从Whatman滤纸上的干血斑中提取基因组DNA。进行聚合酶链反应以确定MTHFR C677T多态性。对照者中C677T等位基因多态性的频率为21.2%，分别对应杂合子和纯合子阶段频率为35.4%和3.5%。在患者组中，发现等位基因频率为33.2%，对应48.5%的杂合子个体和8.9%的纯合子个体。比较两组之间突变等位基因的频率，患者组中发现突变等位基因的频率显著较高（P<.05）。总之，在动脉血栓形成患者组中发现的MTHFR C677T多态性高频率表明，这种多态性可能会增加格鲁吉亚患者动脉血栓形成的风险。
