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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A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. / 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.
in: AM J HUM GENET, Jahrgang 86, Nr. 4, 09.04.2010, S. 592-595.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1
AU - Morange, Pierre-Emmanuel
AU - Bezemer, Irene
AU - Saut, Noémie
AU - Bare, Lance
AU - Burgos, Gwenaelle
AU - Brocheton, Jessy
AU - Durand, Hervé
AU - Biron-Andreani, Christine
AU - Schved, Jean-Francois
AU - Pernod, Gilles
AU - Galan, Pilar
AU - Drouet, Ludovic
AU - Zelenika, Diana
AU - Germain, Marine
AU - Nicaud, Viviane
AU - Heath, Simon
AU - Ninio, Ewa
AU - Delluc, Aurélien
AU - Münzel, Thomas
AU - Zeller, Tanja
AU - Brand-Herrmann, Stefan-Martin
AU - Alessi, Marie-Christine
AU - Tiret, Laurence
AU - Lathrop, Mark
AU - Cambien, François
AU - Blankenberg, Stefan
AU - Emmerich, Joseph
AU - Trégouët, David-Alexandre
AU - Rosendaal, Frits R
N1 - (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
PY - 2010/4/9
Y1 - 2010/4/9
N2 - 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.
AB - 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.
KW - Case-Control Studies
KW - Chromosomes, Human, Pair 6/genetics
KW - DNA-Binding Proteins/genetics
KW - Follow-Up Studies
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Humans
KW - Polymorphism, Single Nucleotide/genetics
KW - Transcription Factors/genetics
KW - Venous Thrombosis/genetics
U2 - 10.1016/j.ajhg.2010.02.011
DO - 10.1016/j.ajhg.2010.02.011
M3 - SCORING: Journal article
C2 - 20226436
VL - 86
SP - 592
EP - 595
JO - AM J HUM GENET
JF - AM J HUM GENET
SN - 0002-9297
IS - 4
ER -