Morange, Pierre-Emmanuel and Oudot-Mellakh, Tiphaine and Cohen, William and Germain, Marine and Saut, Noémie and Antoni, Guillemette and Alessi, Marie-Christine and Bertrand, Marion and Dupuy, Anne-Marie and Letenneur, Luc and Lathrop, Mark and Lopez, Lorna M. and Lambert, Jean-Charles and Emmerich, Joseph and Amouyel, Philippe and Trégouët, David-Alexandre (2011) KNG1 Ile581Thr and susceptibility to venous thrombosis. Blood, 117 (13). pp. 3692-3694. ISSN 0006-4971

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Abstract

Three single nucleotide polymorphisms (SNPs) were recently found to be associated with activated partial thromboplastin time (aPTT). Because shortened aPTT levels have been observed in patients experiencing venous thrombosis (VT), we investigated the effects of these 3 aPTT-associated SNPs, rs2731672, rs9898, and rs710446, on the risk of VT in a sample of 1110 healthy patients and 1542 patients with VT. Among the 3 tested SNPs, only rs710446 was associated with VT risk; the rs710446-C allele was associated with an increased risk of VT (odds ratio 1.196, 95% confidence interval 1.071-1.336, P = .0012). This association also was observed in an independent sample of 590 controls and 596 patients (odds ratio 1.171, 95% confidence interval 0.889-1.541, P = .059). We also confirmed that the rs710446-C allele was associated with decreased aPTT levels, making this nonsynonymous Ile581Thr variant a new genetic risk factor for VT.

Item Type:	Article
Keywords:	KNG1 Ile581Thr; susceptibility; venous thrombosis;
Academic Unit:	Faculty of Science and Engineering > Biology Faculty of Science and Engineering > Research Institutes > Human Health Institute
Item ID:	17400
Identification Number:	https://doi.org/10.1182/blood-2010-11-319053
Depositing User:	Lorna Lopez
Date Deposited:	10 Jul 2023 15:51
Journal or Publication Title:	Blood
Publisher:	American Society of Hematology
Refereed:	Yes
URI:	Publisher
Use Licence:	This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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