期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 86, 期 4, 页码 592-595出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2010.02.011
关键词
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资金
- Fondation pour la Recherche Medicale
- Program Hospitalier de Recherche Clinique
- Fondation de France
- Leducq Foundation
- Program Hospitalier de la Recherche Clinique
- Agence Nationale pour la Recherche [ANR-07-MRAR-021]
- EU [FP6-2005-LIFE-SCIHEALTH-6, FP7-ICT-2007-2, 224635]
- Virtual Pathological Heart of the Virtual Physiological Human (VPH2)
- government of Rheinland-Pfalz [AZ 961-386261/733]
- Johnnes Guten-berg-University of Mainz
- Boehringer Ingelheim
- PHILIPS Medical Systems
- Gutenberg Heart Study
- Federal Ministry of Education and Research, Germany [A3 01GS0833]
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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