Current knowledge on the genetics of incident venous thrombosis
Summary The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and...
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Veröffentlicht in: | Journal of thrombosis and haemostasis 2013-06, Vol.11, p.111-121 |
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creator | Morange, P.‐E. Trégouët, D.‐A. |
description | Summary
The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT, most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high‐throughput micro‐array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT. |
doi_str_mv | 10.1111/jth.12233 |
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The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT, most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high‐throughput micro‐array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT.</description><identifier>ISSN: 1538-7933</identifier><identifier>ISSN: 1538-7836</identifier><identifier>EISSN: 1538-7836</identifier><identifier>DOI: 10.1111/jth.12233</identifier><identifier>PMID: 23809115</identifier><language>eng</language><publisher>England: Elsevier Limited</publisher><subject>coagulation ; Genetic Predisposition to Disease ; Genetic Testing ; genetics ; heredity ; Humans ; pulmonary embolism ; venous thrombosis ; Venous Thrombosis - genetics</subject><ispartof>Journal of thrombosis and haemostasis, 2013-06, Vol.11, p.111-121</ispartof><rights>2013 International Society on Thrombosis and Haemostasis</rights><rights>2013 International Society on Thrombosis and Haemostasis.</rights><rights>Copyright © 2013 International Society on Thrombosis and Haemostasis</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3883-1a0933de63a846f94c8dc594341614fda2d559851c02223dcf890ed2574471343</citedby><cites>FETCH-LOGICAL-c3883-1a0933de63a846f94c8dc594341614fda2d559851c02223dcf890ed2574471343</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23809115$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Morange, P.‐E.</creatorcontrib><creatorcontrib>Trégouët, D.‐A.</creatorcontrib><title>Current knowledge on the genetics of incident venous thrombosis</title><title>Journal of thrombosis and haemostasis</title><addtitle>J Thromb Haemost</addtitle><description>Summary
The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT, most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high‐throughput micro‐array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT.</description><subject>coagulation</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>genetics</subject><subject>heredity</subject><subject>Humans</subject><subject>pulmonary embolism</subject><subject>venous thrombosis</subject><subject>Venous Thrombosis - genetics</subject><issn>1538-7933</issn><issn>1538-7836</issn><issn>1538-7836</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kEFLwzAYhoMobk4P_gEpeNFDXZIv6dKTyFCnDLzMc-iSdOtsm5m0jv17M7t5EPwu-SAPL-_3IHRJ8B0JM1w1yztCKcAR6hMOIh4JSI4PewrQQ2ferzAmKaf4FPUoCJwSwvvoftw6Z-om-qjtpjR6YSJbR83SRAtTm6ZQPrJ5VNSq0Dvqy9S29eHf2WpufeHP0Umeld5c7N8Ben96nI0n8fTt-WX8MI0VCAExyXCooU0CmWBJnjIltOIpA0YSwnKdUc15KjhRmIZDtMpFio2mfMTYiACDAbrpctfOfrbGN7IqvDJlmdUmNJKEYZxQAgICev0HXdnW1aGdJDCinApIeaBuO0o5670zuVy7osrcVhIsd1ZlsCp_rAb2ap_Yziujf8mDxgAMO2BTlGb7f5J8nU26yG-1on6F</recordid><startdate>201306</startdate><enddate>201306</enddate><creator>Morange, P.‐E.</creator><creator>Trégouët, D.‐A.</creator><general>Elsevier Limited</general><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>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201306</creationdate><title>Current knowledge on the genetics of incident venous thrombosis</title><author>Morange, P.‐E. ; Trégouët, D.‐A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3883-1a0933de63a846f94c8dc594341614fda2d559851c02223dcf890ed2574471343</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>coagulation</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>genetics</topic><topic>heredity</topic><topic>Humans</topic><topic>pulmonary embolism</topic><topic>venous thrombosis</topic><topic>Venous Thrombosis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Morange, P.‐E.</creatorcontrib><creatorcontrib>Trégouët, D.‐A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of thrombosis and haemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Morange, P.‐E.</au><au>Trégouët, D.‐A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Current knowledge on the genetics of incident venous thrombosis</atitle><jtitle>Journal of thrombosis and haemostasis</jtitle><addtitle>J Thromb Haemost</addtitle><date>2013-06</date><risdate>2013</risdate><volume>11</volume><spage>111</spage><epage>121</epage><pages>111-121</pages><issn>1538-7933</issn><issn>1538-7836</issn><eissn>1538-7836</eissn><abstract>Summary
The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT, most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high‐throughput micro‐array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT.</abstract><cop>England</cop><pub>Elsevier Limited</pub><pmid>23809115</pmid><doi>10.1111/jth.12233</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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subjects | coagulation Genetic Predisposition to Disease Genetic Testing genetics heredity Humans pulmonary embolism venous thrombosis Venous Thrombosis - genetics |
title | Current knowledge on the genetics of incident venous thrombosis |
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