2016
DOI: 10.1016/j.medici.2016.01.003
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The importance of MTHFR C677T/A1298C combined polymorphisms in pulmonary embolism in Turkish population

Abstract: We found an association between MTHFR C677T/A1298C combined mutations and PE in the Turkish population. Future genetic studies investigating combined mutations could be very helpful to identify risk population in PE.

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Cited by 13 publications
(11 citation statements)
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“…Moreover, the deficiency of MTHFR results in hyperhomocysteinemia/homocystinuria and although an association was shown between MTHFR C677T/A1298 C combined mutations and PE in the Turkish population, the evidence on the impact of MTHFR polymorphisms on the risk of PE still remains weak. 4 On the other hand, in a meta-analysis by Young et al, 5 it was stated that the presence of the thrombophilia traits of antithrombin, protein C, and protein S produced the odds ratios (OR) of 8.73, 7.75 and 5.77, respectively, for paediatric VTE and revealed a significant association with the first onset of VTE, as well as recurrence. In an analysis by Kemer et al 6 it was concluded that significant associations between paediatric venous thrombosis and presence of protein C, protein S and antithrombin deficiency, factor V (F5: rs6025), factor II (F2: rs1799963) have been revealed in many studies and it was also stated that the risk is even more pronounced when combined inherited thrombophilias are involved.…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, the deficiency of MTHFR results in hyperhomocysteinemia/homocystinuria and although an association was shown between MTHFR C677T/A1298 C combined mutations and PE in the Turkish population, the evidence on the impact of MTHFR polymorphisms on the risk of PE still remains weak. 4 On the other hand, in a meta-analysis by Young et al, 5 it was stated that the presence of the thrombophilia traits of antithrombin, protein C, and protein S produced the odds ratios (OR) of 8.73, 7.75 and 5.77, respectively, for paediatric VTE and revealed a significant association with the first onset of VTE, as well as recurrence. In an analysis by Kemer et al 6 it was concluded that significant associations between paediatric venous thrombosis and presence of protein C, protein S and antithrombin deficiency, factor V (F5: rs6025), factor II (F2: rs1799963) have been revealed in many studies and it was also stated that the risk is even more pronounced when combined inherited thrombophilias are involved.…”
Section: Discussionmentioning
confidence: 99%
“…26–28 A study of pulmonary embolism found that the compound heterozygous state, C677T+A1298C, was more liable to pulmonary embolus. 29 A study of Tunisian patients with type 2 diabetes and MTHFR variants demonstrated that C677T+A1298C had the greatest risk for DR and complications. 12 …”
Section: Introductionmentioning
confidence: 99%
“…But the results of these studies were conflicting and the sample size of individual studies was inadequate to draw a definite conclusion. [9][10][11][12] Therefore, we performed the present meta-analysis to better elucidate the roles of MTHFR polymorphisms in VTE.…”
Section: Introductionmentioning
confidence: 99%