A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. - Université de Bretagne Occidentale Access content directly
Journal Articles American Journal of Human Genetics Year : 2010

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

Irene Bezemer
  • Function : Author
Lance Bare
  • Function : Author
Gwenaelle Burgos
  • Function : Author
Thomas Münzel
Tanja Zeller
  • Function : Author
Stefan-Martin Brand-Herrmann
  • Function : Author
Frits R Rosendaal
  • Function : Author

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.

Dates and versions

hal-00930143 , version 1 (14-01-2014)

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Cite

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, 2010, 86 (4), pp.592-5. ⟨10.1016/j.ajhg.2010.02.011⟩. ⟨hal-00930143⟩
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