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A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.

Pierre-Emmanuel Morange 1 Irene Bezemer Noémie Saut 1 Lance Bare Gwenaelle Burgos Jessy Brocheton 2 Hervé Durand 3 Christine Biron-Andreani 4 Jean-Francois Schved 4 Gilles Pernod 5 Pilar Galan 6 Ludovic Drouet 7 Diana Zelenika 8 Marine Germain 2 Viviane Nicaud 3 Simon Heath 8 Ewa Ninio 2 Aurélien Delluc 9, 10 Thomas Münzel 11 Tanja Zeller Stefan-Martin Brand-Herrmann Marie-Christine Alessi 1, 12 Laurence Tiret 2 Mark Lathrop 13 François Cambien 2 Stefan Blankenberg 14 Joseph Emmerich 15, 16 David-Alexandre Trégouët 2 Frits R Rosendaal
Abstract : To identify genetic susceptibility factors conferring increased risk of venous thrombosis (VT), we conducted a multistage study, following results of a previously published GWAS that failed to detect loci for developing VT. Using a collection of 5862 cases with VT and 7112 healthy controls, we identified the HIVEP1 locus on chromosome 6p24.1 as a susceptibility locus for VT. Indeed, the HIVEP1 rs169713C allele was associated with an increased risk for VT, with an odds ratio of 1.20 (95% confidence interval 1.13-1.27, p = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions. The current results provide the identification of a locus involved in VT susceptibility that lies outside the traditional coagulation/fibrinolysis pathway.
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https://hal.univ-brest.fr/hal-00930143
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Submitted on : Tuesday, January 14, 2014 - 1:26:54 PM
Last modification on : Friday, July 3, 2020 - 4:51:13 PM

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Pierre-Emmanuel Morange, Irene Bezemer, Noémie Saut, Lance Bare, Gwenaelle Burgos, et al.. A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.. American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (4), pp.592-5. ⟨10.1016/j.ajhg.2010.02.011⟩. ⟨hal-00930143⟩

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