Universität zu Köln

Buxhofer-Ausch, Veronika, Olcaydu, Damla, Gisslinger, Bettina, Schalling, Martin ORCID: 0000-0001-5011-2922, Frantal, Sophie, Thiele, Juergen, Muellauer, Leonhard, Kvasnicka, Hans-Michael, Watzke, Herbert, Kralovics, Robert ORCID: 0000-0002-6997-8539 and Gisslinger, Heinz (2014). Decanucleotide insertion polymorphism of F7 significantly influences the risk of thrombosis in patients with essential thrombocythemia. Eur. J. Haematol., 93 (2). S. 103 - 112. HOBOKEN: WILEY. ISSN 1600-0609

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Abstract

Objective: There is strong evidence that certain thrombophilic single nucleotide polymorphisms (SNPs) account for an increased risk of thrombosis. The additive impact of inherited thrombotic risk factors to a certain disease-immanent thrombotic risk is vastly unknown. Therefore, we aimed to investigate the influence of three novel, preselected SNPs on the risk of thrombosis in patients diagnosed with myeloproliferative neoplasm (MPN). Method: In 167 patients with a diagnosis of essential thrombocythemia (ET) or prefibrotic primary myelofibrosis (PMF) thrombophilic SNPs in the genes of factor VII (F7), nitric oxide synthase 3 (NOS3) and Fc.RIIa (FCGR2A) were determined. Subsequently, the polymorphic variants were correlated with the incidence of major thrombosis after diagnosis. Results: Decanucleotide insertion polymorphism of F7 emerged as an independent, significant risk factor for total thrombosis and arterial thrombosis in particular in the whole group of patients (P = 0.0007) as well as in the separate analysis of patients with ET (P = 0.0002). Conclusion: Our results illustrate that the risk of thrombosis in MPN is significantly multiplied by inherited thrombophilic SNPs. This result points to the importance of a combined consideration of the inherited and the acquired hypercoagulable state in patients with MPN. Larger studies are needed to confirm and extend these important findings.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Buxhofer-Ausch, Veronika UNSPECIFIED UNSPECIFIED UNSPECIFIED Olcaydu, Damla UNSPECIFIED UNSPECIFIED UNSPECIFIED Gisslinger, Bettina UNSPECIFIED UNSPECIFIED UNSPECIFIED Schalling, Martin UNSPECIFIED orcid.org/0000-0001-5011-2922 UNSPECIFIED Frantal, Sophie UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Juergen UNSPECIFIED UNSPECIFIED UNSPECIFIED Muellauer, Leonhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Kvasnicka, Hans-Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Watzke, Herbert UNSPECIFIED UNSPECIFIED UNSPECIFIED Kralovics, Robert UNSPECIFIED orcid.org/0000-0002-6997-8539 UNSPECIFIED Gisslinger, Heinz UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-432593
DOI:	10.1111/ejh.12307
Journal or Publication Title:	Eur. J. Haematol.
Volume:	93
Number:	2
Page Range:	S. 103 - 112
Date:	2014
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1600-0609
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FACTOR-VII GENE; NITRIC-OXIDE SYNTHASE; WORLD-HEALTH-ORGANIZATION; CORONARY-ARTERY-DISEASE; ACTIVATED PROTEIN-C; MYOCARDIAL-INFARCTION; POLYCYTHEMIA-VERA; DIAGNOSTIC-CRITERIA; VENOUS THROMBOSIS; HEART-DISEASE Multiple languages Hematology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43259