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

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Morange, Pierre-Emmanuel | Bezemer, Irene | Saut, Noémie | Bare, Lance | Burgos, Gwenaelle | Brocheton, Jessy | Durand, Hervé | Biron-Andreani, Christine | Schved, Jean-Francois | Pernod, Gilles | Galan, Pilar | Drouet, Ludovic | Zelenika, Diana | Germain, Marine | Nicaud, Viviane | Heath, Simon | Ninio, Ewa | Delluc, Aurélien | Münzel, Thomas | Zeller, Tanja | Brand-Herrmann, Stefan-Martin | Alessi, Marie-Christine | Tiret, Laurence | Lathrop, Mark | Cambien, François | Blankenberg, Stefan | Emmerich, Joseph | Trégouët, David-Alexandre | Rosendaal, Frits R

Edité par CCSD ; Elsevier (Cell Press) -

International audience. 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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