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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.


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.

SUBMITTER: Morange PE 

PROVIDER: S-EPMC2850428 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature

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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.

Morange Pierre-Emmanuel PE   Bezemer Irene I   Saut Noémie N   Bare Lance L   Burgos Gwenaelle G   Brocheton Jessy J   Durand Hervé H   Biron-Andreani Christine C   Schved Jean-Francois JF   Pernod Gilles G   Galan Pilar P   Drouet Ludovic L   Zelenika Diana D   Germain Marine M   Nicaud Viviane V   Heath Simon S   Ninio Ewa E   Delluc Aurélien A   Münzel Thomas T   Zeller Tanja T   Brand-Herrmann Stefan-Martin SM   Alessi Marie-Christine MC   Tiret Laurence L   Lathrop Mark M   Cambien François F   Blankenberg Stefan S   Emmerich Joseph J   Trégouët David-Alexandre DA   Rosendaal Frits R FR  

American journal of human genetics 20100311 4


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% confiden  ...[more]

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