TAFI gene polymorphisms in patients with cerebral venous thrombosis

Abstract

Gene polymorphisms of thrombin activatable fibrinolysis inhibition (TAFI) factor have been investigated in various studies in terms of etiology (recurrence) and treatment (fibrinolytic effect) of thrombus formation. Cerebral venous thrombosis (CVT) is a life-threatening disease observed in young persons. Fifty-nine patients with CVT and 100 healthy control subjects were enrolled in the case/control study. The association between TAFI gene polymorphisms -438G>A, +505A>G and +1040C>T and cerebral venous thrombosis was investigated. It was found that frequencies of polymorphic genotype and allele were not different in patients than in control group and that they were not significant for cerebral venous thrombosis.

Impact of genetic polymorphisms in thrombin activatable fibrinolysis inhibitor (TAFI) on venous thrombosis disease: A meta-analysis

“…Finally, we enrolled 13 studies in our meta-analysis (Tokgoz et al, 2013;Orikaza et al, 2014;Li et al, 2012;Zhang et al, 2010aZhang et al, , 2010bVerdu et al, 2006Verdu et al, , 2008de Bruijne et al, 2007;Martini et al, 2006;Lichy et al, 2006;Zidane et al, 2003;Knoefler et al, 2003;Morange et al, 2001), including 2321 patients and 2464 controls. All the studies gained a score higher than 5 points based on the Newcastle-Ottawa scale, indicating that the methodological quality was well done.…”

“…Thrombin-activatable fibrinolysis inhibitor (TAFI), as an important anti-fibrinolytic factor, could inhibit fibrinolysis, which was associated with thrombotic disease (Boffa and Koschinsky, 2007). Recent studies have been reported that elevated plasma levels of TAFI appeared in cerebral venous thrombosis (Tokgoz et al, 2013), deep venous thrombosis (van Tilburg et al, 2000), coronary artery disease (Morange et al, 2005;De Bruijne et al, 2009), stroke (De Bruijne et al, 2009Brouns et al, 2010;Leebeek et al, 2005;Ladenvall et al, 2007a) and venous thromboembolism (Eichinger et al, 2004).…”

Meta-analysis of TAFI polymorphisms and risk of cardiovascular and cerebrovascular diseases

“…Additionally, TAFI may also help the growth and spread of tumor cells owing to the accumulation of intra-tumor fibrin and activation of the blood coagulation system (Fidan et al, 2012). TAFI is important in CCVDs, such as coronary heart disease, angina pectoris, ischemic stroke, myocardial infarction, and venous thrombosis, mainly owing to its role in thrombosis treatment (Zorio et al, 2003;Leebeek et al, 2005;Tokgoz et al, 2013). Polymorphisms of the CPB2 gene result in changes in the amino acid sequence and function of TAFI, especially in the molecular stability of TAFIa and its anti-fibrinolytic activity in arterial thrombosis.…”

“…An additional study was removed owing to a lack of data integrity. Ultimately, we obtained nine case-control research papers published between 2003 and 2013 that were of moderate-to-high quality (Zorio et al, 2003;Leebeek et al, 2005;Xu et al, 2008;Biswas et al, 2009;Si, 2010;Kamal et al, 2011;Shi et al, 2011;Sun et al, 2011;Tokgoz et al, 2013). The demographic information, baseline characteristics, and other features, and the methodological quality of the extracted studies are presented in Tables 1 and 2.…”

“…Ala147Thr (rs3742264) and Thr325Ile (rs1926447) polymorphisms in the coding region of the CPB2 gene, which correspond to 505G>A and 1040C>T amino acid mutations, respectively, may result in a TAFI isoform with altered anti-fibrinolytic activity; they are the most common polymorphisms in the CPB2 gene and are significantly associated with TAFI plasma antigen levels (Chengwei et al, 2013;Tokgoz et al, 2013). To the best of our knowledge, there are opposing opinions with regards to the relationship between CPB2 gene polymorphisms and susceptibility to CCVDs (Sun et al, 2011;Tokgoz et al, 2013). In this meta-analysis, we investigated the association between alternations in TAFI levels arising from two common polymorphisms, rs3742264 G>A and rs1926447 C>T, and the risk of developing CCVDs.…”