TY - JOUR
T1 - Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis
AU - de Bruijne, Emile L. E.
AU - Darwish Murad, Sarwa
AU - de Maat, Moniek P. M.
AU - Tanck, Michael W. T.
AU - Haagsma, Elizabeth B.
AU - van Hoek, Bart
AU - Rosendaal, Frits R.
AU - Janssen, Harry L. A.
AU - Leebeek, Frank W. G.
PY - 2007
Y1 - 2007
N2 - Splanchnic vein thrombosis (SVT) has been associated with a hypercoagulable state. Thrombin-activatable fibrinolysis inhibitor (TAFI) may contribute to a hypercoagulable state, and therefore we were interested in the role of TAFI in SVT. Since the disease is frequently associated with liver insufficiency, which affects plasma levels of TAFI, we studied the role of variation in the TAFI gene in SVT. In a multicenter case-control study on 118 patients with SVT (39 Budd-Chiari syndrome and 85 portal vein thrombosis) and 118 population-based controls, the relationship of SVT with single nucleotide polymorphisms (SNPs) and haplotypes in the TAFI gene (-438G/A, Ala147Thr, Thr325Ile and 1583A/T) was determined. The risk for SVT was decreased (OR 0.2, 95% CI 0.1-0.7) in 147Thr/Thr homozygotes and slightly, but not significantly, increased in carriers of the 325Ile allele (OR 1.6, 95%CI 0.9-2.7). Haplotype analysis confirmed that the Ala147Thr SNP has the strongest association with risk of SVT. In conclusion, genetic variation in the TAFI gene is associated with risk of SVT, suggesting a role for TAFI in the pathogenetic mechanism of SVT
AB - Splanchnic vein thrombosis (SVT) has been associated with a hypercoagulable state. Thrombin-activatable fibrinolysis inhibitor (TAFI) may contribute to a hypercoagulable state, and therefore we were interested in the role of TAFI in SVT. Since the disease is frequently associated with liver insufficiency, which affects plasma levels of TAFI, we studied the role of variation in the TAFI gene in SVT. In a multicenter case-control study on 118 patients with SVT (39 Budd-Chiari syndrome and 85 portal vein thrombosis) and 118 population-based controls, the relationship of SVT with single nucleotide polymorphisms (SNPs) and haplotypes in the TAFI gene (-438G/A, Ala147Thr, Thr325Ile and 1583A/T) was determined. The risk for SVT was decreased (OR 0.2, 95% CI 0.1-0.7) in 147Thr/Thr homozygotes and slightly, but not significantly, increased in carriers of the 325Ile allele (OR 1.6, 95%CI 0.9-2.7). Haplotype analysis confirmed that the Ala147Thr SNP has the strongest association with risk of SVT. In conclusion, genetic variation in the TAFI gene is associated with risk of SVT, suggesting a role for TAFI in the pathogenetic mechanism of SVT
U2 - https://doi.org/10.1160/TH06-07-0407
DO - https://doi.org/10.1160/TH06-07-0407
M3 - Article
C2 - 17264944
SN - 0340-6245
VL - 97
SP - 181
EP - 185
JO - Thrombosis and haemostasis
JF - Thrombosis and haemostasis
IS - 2
ER -