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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease
Journal of Thrombosis and Thrombolysis, Volume 17, No. 3, Year 2004
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Description
Background: Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism. However, their contribution in the development of coronary artery disease [CAD] remains controversial. The aim of the study was to examine the association of these mutations in CAD. Methods: A total of 96 patients with angiographically-demonstrated CAD [mean age 55.3 ± 11.3], and 404 healthy subjects [mean age 50.7 ± 8.9] were recruited into the study. Fasting plasma homocysteine was determined by HPLC, and genotype analysis was assessed by PCR-RFLP. Results: The carrier frequency of factor V-Leiden (14.6% vs. 15.1%, p = 0.617) and PRT G20210A (3.1% vs. 3.0%; p = 0.936) were similar between patients and controls, respectively. In contrast, the frequency of the MTHFR variant C677T was 71.9% among patients compared with 45.5% in controls (p < 0.001), of which the T/T genotype was significantly higher among patients (31.3%) than controls (4.5%; p < 0.001). Significantly higher homocysteine levels were seen among T/T genotype in both groups compared to non-T/T carriers (p < 0.05), and among patients compared with controls (18.47 ± 3.73 μmol/L vs. 16.28 ± 4.16 μmol/L). In addition, the coexistence of MTHFR C677T with FV-Leiden was seen in 10.4% of CAD patients compared 6.9% of controls (p = 0.001). Conclusion: While results from this study clearly demonstrate a strong association of hyperhomocysteinemia and homozygosity of the MTHFR C677T, but not FV-Leiden or PRT G20210A, mutations with confirmed CAD, they also suggest a potential role for factor V-Leiden in MTHFR C677T carriers. © 2004 Kluwer Academic Publishers.
Authors & Co-Authors
Almawi, Wassim Y.
Bahrain, Manama
Arabian Gulf University
Ameen, Ghada
Bahrain, Manama
Arabian Gulf University
Tamim, Hala M.
Lebanon, Beirut
American University of Beirut
Finan, Ramzi R.
Lebanon, Beirut
Saint George Hospital University Medical Center
Irani-Hakimé, Noha A.
Lebanon, Beirut
Saint George Hospital University Medical Center
Statistics
Citations: 48
Authors: 5
Affiliations: 3
Identifiers
Doi:
10.1023/B:THRO.0000040489.86029.27
ISSN:
09295305
Research Areas
Genetics And Genomics