Abstract：
:A suggestive locus on chromosome 8 could be shown to be associated with familial high factor VIII (FVIII) levels in venous thromboembolism. The ADAMDEC 1 gene is a candidate expressing an ectodomain sheddase. However, the ectodomain of the clearance receptor for FVIII, the low-density lipoprotein receptor-related protein (LRP), is subject to proteolysis by metalloproteases like ADAMDEC1. Other LRP-interacting proteins are lipoprotein lipase (LPL) and t-PA. For an association study, 165 thrombotic patients with high FVIII levels (from the MAISTHRO, i.e. Main-Isar-thrombosis register) were included. All patients with known causes for high FVIII levels had been previously excluded. The patients were compared with 214 healthy blood donors. Polymorphisms with usually a minor allele frequency >5%, i.e. 24 SNPs and two insertion/deletion polymorphisms of LPL gene, eight SNPs of the t-PA gene, and five SNPs of the ADAMDEC1 gene, were analyzed. Haplotype differences were calculated using PHASE. A new polymorphism in intron 7 of the t-PA gene with a minor allele frequency of 2.2% was identified. Analysis of each SNP by the Cochrane-Armitage trend test did not show any significant association between genotype and disease status. Interestingly, the ADAMDEC1 haplotype (rs12674766, rs10087305, rs2291577, rs2291578, rs3765124) differed between cases and controls (p = 0.04). In particular, the TGTGG haplotype showed a difference. In conclusion, the ADAMDEC 1 haplotype may indicate an underlying mechanism for high FVIII levels. The only moderate linkage disequilibrium may be due to a possible causal polymorphism in distant introns or the promoter region against a polygenic background.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Berger M,Moscatelli H,Kulle B,Luxembourg B,Blouin K,Spannagl M,Lindhoff-Last E,Schambeck CMdoi
10.1160/TH08-01-0059subject
Has Abstractpub_date
2008-05-01 00:00:00pages
905-8issue
5eissn
0340-6245issn
2567-689Xpii
08050905journal_volume
99pub_type
杂志文章,多中心研究abstract：:Antiphospholipid syndrome (APS) is an acquired thrombophilia with an uncertain role in the development of chronic thromboembolic pulmonary hypertension (CTEPH). We aimed to assess the association of APS with the clinical phenotype of CTEPH. We retrospectively reviewed data of CTEPH patients referred to our center. Cli...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1055/s-0039-1692428
更新日期：2019-09-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,多中心研究
doi：
更新日期：1995-01-01 00:00:00
abstract：:Tissue factor (TF) is the primary initiator of the coagulation cascade and is thought to play a key role in the generation of arterial thrombosis. Recent studies have suggested that TF mediates inflammatory processes in the arterial wall and may be an important regulator of intimal hyperplasia. We have employed geneti...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH04-02-0122
更新日期：2004-09-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1995-12-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,多中心研究
doi：
更新日期：1999-06-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH04-12-0774
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1055/s-0038-1676794
更新日期：2019-03-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,评审
doi：
更新日期：1997-07-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH04-11-0769
更新日期：2005-05-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
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更新日期：1998-09-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,多中心研究
doi：10.1055/s-0038-1626697
更新日期：2018-03-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1995-08-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1990-04-12 00:00:00
abstract：:Thrombomodulin (TM) is an endothelial glycoprotein that functions as a thrombin cofactor in the activation of protein C. Recent evidence has revealed that TM has unique effects on cellular proliferation, adhesion, and inflammation. We examined TM expression in the arterial remodeling process with different shear condi...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：2007-04-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,评审
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更新日期：2013-07-01 00:00:00
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journal_title：Thrombosis and haemostasis
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更新日期：1994-07-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
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journal_title：Thrombosis and haemostasis
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doi：10.1160/TH04-12-0831
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1991-04-08 00:00:00
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journal_title：Thrombosis and haemostasis
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doi：
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journal_title：Thrombosis and haemostasis
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doi：
更新日期：1999-11-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1994-08-01 00:00:00
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doi：10.1160/TH15-12-0982
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH09-03-0165
更新日期：2010-02-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1993-09-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1992-03-02 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
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更新日期：2013-06-01 00:00:00
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journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1984-10-31 00:00:00
