Methylenetetrahydrofolate Reductase Gene Polymorphism (C677T) as a Risk Factor for Arterial Thrombosis in Georgian Patients
| Autor: | R. Khukhunaishvili, N. Kakauridze, Elsa Bronze-Rocha, Irina Nakashidze, Salome Glonti, M. Koridze, Alice Santos-Silva, Elísio Costa, Giorgi Nikolaishvili, Sopio Garakanidze, Sarfraz Ahmad |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty gene polymorphism 030204 cardiovascular system & hematology arterial thrombosis Gastroenterology Georgia (Republic) law.invention 03 medical and health sciences 0302 clinical medicine law Risk Factors Internal medicine Medicine Humans Genetic Predisposition to Disease Myocardial infarction Allele Allele frequency Polymerase chain reaction Methylenetetrahydrofolate Reductase (NADPH2) Polymorphism Genetic biology business.industry Thrombosis Hematology General Medicine Original Articles Georgian population Middle Aged medicine.disease methylenetetrahydrofolate reductase C677T Venous thrombosis 030104 developmental biology myocardial infarction risk factor Methylenetetrahydrofolate reductase biology.protein Female Gene polymorphism business |
| Zdroj: | Clinical and Applied Thrombosis/Hemostasis |
| ISSN: | 1938-2723 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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