Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis
Summary 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...
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| Veröffentlicht in: | Thrombosis and haemostasis 2007-02, Vol.97 (2), p.181-185 |
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| creator | de Bruijne, Emile L. E. Murad, Sarwa Darwish de Maat, Moniek P. M. Tanck, Michael W. T. Haagsma, Elizabeth B. van Hoek, Bart Rosendaal, Frits R. Janssen, Harry L. A. Leebeek, Frank W. G. |
| description | Summary
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 ofTAFI, we studied the role of variation in theTAFI 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. |
| doi_str_mv | 10.1160/TH06-07-0407 |
| format | Article |
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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 ofTAFI, we studied the role of variation in theTAFI 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.</description><identifier>ISSN: 0340-6245</identifier><identifier>EISSN: 2567-689X</identifier><identifier>DOI: 10.1160/TH06-07-0407</identifier><identifier>PMID: 17264944</identifier><identifier>CODEN: THHADQ</identifier><language>eng</language><publisher>Stuttgart: Schattauer Verlag für Medizin und Naturwissenschaften</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alanine ; Biological and medical sciences ; Blood Coagulation, Fibrinolysis and Cellular Haemostasis ; Blood coagulation. Blood cells ; Budd-Chiari syndrome ; Budd-Chiari Syndrome - genetics ; Carboxypeptidase B2 - genetics ; Case-Control Studies ; Female ; fibrinolysis ; Fundamental and applied biological sciences. Psychology ; Genetic Predisposition to Disease ; Genetic Variation ; Haplotypes ; Hematologic and hematopoietic diseases ; Humans ; inflammation ; Male ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Netherlands ; Odds Ratio ; Platelet diseases and coagulopathies ; Polymorphism, Single Nucleotide ; Portal Vein ; portal vein thrombosis ; Risk Factors ; single nucleotide polymorphism ; splanchnic vein thrombosis ; Threonine ; Thrombin-activatable fibrinolysis inhibitor ; Venous Thrombosis - genetics</subject><ispartof>Thrombosis and haemostasis, 2007-02, Vol.97 (2), p.181-185</ispartof><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c647t-8422d8617a50246ec92c1508560d498e796e14ba5e77c1d4a5292bfde1f71e663</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1160/TH06-07-0407.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><linktohtml>$$Uhttps://www.thieme-connect.de/products/ejournals/html/10.1160/TH06-07-0407$$EHTML$$P50$$Gthieme$$H</linktohtml><link.rule.ids>314,780,784,3018,27924,27925,54559,54560</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18495871$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17264944$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Bruijne, Emile L. E.</creatorcontrib><creatorcontrib>Murad, Sarwa Darwish</creatorcontrib><creatorcontrib>de Maat, Moniek P. M.</creatorcontrib><creatorcontrib>Tanck, Michael W. T.</creatorcontrib><creatorcontrib>Haagsma, Elizabeth B.</creatorcontrib><creatorcontrib>van Hoek, Bart</creatorcontrib><creatorcontrib>Rosendaal, Frits R.</creatorcontrib><creatorcontrib>Janssen, Harry L. A.</creatorcontrib><creatorcontrib>Leebeek, Frank W. G.</creatorcontrib><creatorcontrib>Liver and Thrombosis Study Group</creatorcontrib><creatorcontrib>for the Liver and Thrombosis Study Group</creatorcontrib><title>Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis</title><title>Thrombosis and haemostasis</title><addtitle>Thromb Haemost</addtitle><description>Summary
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 ofTAFI, we studied the role of variation in theTAFI 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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alanine</subject><subject>Biological and medical sciences</subject><subject>Blood Coagulation, Fibrinolysis and Cellular Haemostasis</subject><subject>Blood coagulation. Blood cells</subject><subject>Budd-Chiari syndrome</subject><subject>Budd-Chiari Syndrome - genetics</subject><subject>Carboxypeptidase B2 - genetics</subject><subject>Case-Control Studies</subject><subject>Female</subject><subject>fibrinolysis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Haplotypes</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>inflammation</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Netherlands</subject><subject>Odds Ratio</subject><subject>Platelet diseases and coagulopathies</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Portal Vein</subject><subject>portal vein thrombosis</subject><subject>Risk Factors</subject><subject>single nucleotide polymorphism</subject><subject>splanchnic vein thrombosis</subject><subject>Threonine</subject><subject>Thrombin-activatable fibrinolysis inhibitor</subject><subject>Venous Thrombosis - genetics</subject><issn>0340-6245</issn><issn>2567-689X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNq1ks-P1CAYhhujccfVm2fDRaPRKjAU2uNm4_5INvEyJt4IpV9T1hZGPjqbPfqfSzOTHWPiTU-l8OR94IWieMnoR8Yk_bS5orKkqqSCqkfFildSlbJuvj0uVnQtaCm5qE6KZ4i3lDIpmuppccIUzyMhVsXPS_CQnCU7E51JLnjiPElDDFPrfGlscjuTTDsC6V0bnQ_jPTrM0OBal0IkbzdnF9fvSJ4ziMHmEOjInUtDTgESHX4noSe4HY23g19M8GAIOep58aQ3I8KLw_e0-HrxeXN-Vd58ubw-P7sprRQqlbXgvKslU6aiXEiwDbesonUlaSeaGlQjgYnWVKCUZZ0wFW9423fAesVAyvVp8Wafu43hxwyY9OTQwpj3BWFGnTuTlZQ8gx_2oI0BMUKvt9FNJt5rRvVSuV4q11TppfKMvzrkzu0E3RE-dJyB1wfAoDVjH3MRDo9cne-kVixz7_dcGhxMoG_DHH1u5G9at6fRDiYlM0N8iDyWq43v9GBgCpjM8m-DT-BTXoh2cDvQDnEGrdZcT8bPaKPbJq2UUBqHcKeHNI3ZZf-hC7eQX8n4py9bpv9v-e1UvwBJlhVb</recordid><startdate>20070201</startdate><enddate>20070201</enddate><creator>de Bruijne, Emile L. E.</creator><creator>Murad, Sarwa Darwish</creator><creator>de Maat, Moniek P. M.</creator><creator>Tanck, Michael W. T.</creator><creator>Haagsma, Elizabeth B.</creator><creator>van Hoek, Bart</creator><creator>Rosendaal, Frits R.</creator><creator>Janssen, Harry L. A.</creator><creator>Leebeek, Frank W. G.</creator><general>Schattauer Verlag für Medizin und Naturwissenschaften</general><general>Schattauer GmbH</general><general>Schattauer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20070201</creationdate><title>Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis</title><author>de Bruijne, Emile L. E. ; Murad, Sarwa Darwish ; de Maat, Moniek P. M. ; Tanck, Michael W. T. ; Haagsma, Elizabeth B. ; van Hoek, Bart ; Rosendaal, Frits R. ; Janssen, Harry L. A. ; Leebeek, Frank W. G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c647t-8422d8617a50246ec92c1508560d498e796e14ba5e77c1d4a5292bfde1f71e663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alanine</topic><topic>Biological and medical sciences</topic><topic>Blood Coagulation, Fibrinolysis and Cellular Haemostasis</topic><topic>Blood coagulation. Blood cells</topic><topic>Budd-Chiari syndrome</topic><topic>Budd-Chiari Syndrome - genetics</topic><topic>Carboxypeptidase B2 - genetics</topic><topic>Case-Control Studies</topic><topic>Female</topic><topic>fibrinolysis</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Haplotypes</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>inflammation</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Netherlands</topic><topic>Odds Ratio</topic><topic>Platelet diseases and coagulopathies</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Portal Vein</topic><topic>portal vein thrombosis</topic><topic>Risk Factors</topic><topic>single nucleotide polymorphism</topic><topic>splanchnic vein thrombosis</topic><topic>Threonine</topic><topic>Thrombin-activatable fibrinolysis inhibitor</topic><topic>Venous Thrombosis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Bruijne, Emile L. E.</creatorcontrib><creatorcontrib>Murad, Sarwa Darwish</creatorcontrib><creatorcontrib>de Maat, Moniek P. M.</creatorcontrib><creatorcontrib>Tanck, Michael W. T.</creatorcontrib><creatorcontrib>Haagsma, Elizabeth B.</creatorcontrib><creatorcontrib>van Hoek, Bart</creatorcontrib><creatorcontrib>Rosendaal, Frits R.</creatorcontrib><creatorcontrib>Janssen, Harry L. A.</creatorcontrib><creatorcontrib>Leebeek, Frank W. G.</creatorcontrib><creatorcontrib>Liver and Thrombosis Study Group</creatorcontrib><creatorcontrib>for the Liver and Thrombosis Study Group</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Thrombosis and haemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de Bruijne, Emile L. E.</au><au>Murad, Sarwa Darwish</au><au>de Maat, Moniek P. M.</au><au>Tanck, Michael W. T.</au><au>Haagsma, Elizabeth B.</au><au>van Hoek, Bart</au><au>Rosendaal, Frits R.</au><au>Janssen, Harry L. A.</au><au>Leebeek, Frank W. G.</au><aucorp>Liver and Thrombosis Study Group</aucorp><aucorp>for the Liver and Thrombosis Study Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis</atitle><jtitle>Thrombosis and haemostasis</jtitle><addtitle>Thromb Haemost</addtitle><date>2007-02-01</date><risdate>2007</risdate><volume>97</volume><issue>2</issue><spage>181</spage><epage>185</epage><pages>181-185</pages><issn>0340-6245</issn><eissn>2567-689X</eissn><coden>THHADQ</coden><abstract>Summary
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 ofTAFI, we studied the role of variation in theTAFI 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.</abstract><cop>Stuttgart</cop><pub>Schattauer Verlag für Medizin und Naturwissenschaften</pub><pmid>17264944</pmid><doi>10.1160/TH06-07-0407</doi><tpages>5</tpages></addata></record> |
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| ispartof | Thrombosis and haemostasis, 2007-02, Vol.97 (2), p.181-185 |
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| subjects | Adolescent Adult Aged Aged, 80 and over Alanine Biological and medical sciences Blood Coagulation, Fibrinolysis and Cellular Haemostasis Blood coagulation. Blood cells Budd-Chiari syndrome Budd-Chiari Syndrome - genetics Carboxypeptidase B2 - genetics Case-Control Studies Female fibrinolysis Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease Genetic Variation Haplotypes Hematologic and hematopoietic diseases Humans inflammation Male Medical sciences Middle Aged Molecular and cellular biology Netherlands Odds Ratio Platelet diseases and coagulopathies Polymorphism, Single Nucleotide Portal Vein portal vein thrombosis Risk Factors single nucleotide polymorphism splanchnic vein thrombosis Threonine Thrombin-activatable fibrinolysis inhibitor Venous Thrombosis - genetics |
| title | Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis |
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