A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1

Morange, P.E.; Bezemer, I.; Saut, N.; Bare, L.; Burgos, G.; Brocheton, J.; ... ; Rosendaal, F.R. (2010)

Article / Letter to editor

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.

• linking inflammation protein atherothrombosis sequence risk

• All authors: Morange, P.E.; Bezemer, I.; Saut, N.; Bare, L.; Burgos, G.; Brocheton, J.; Durand, H.; Biron-Andreani, C.; Schved, J.F.; Pernod, G.; Galan, P.; Drouet, L.; Zelenika, D.; Germain, M.; Nicaud, V.; Heath, S.; Ninio, E.; Delluc, A.; Munzel, T.; Zeller, T.; Brand-Herrmann, S.M.; Alessi, M.C.; Tiret, L.; Lathrop, M.; Cambien, F.; Blankenberg, S.; Emmerich, J.; Tregouet, D.A.; Rosendaal, F.R.
• Date: 2010-04-09
• Journal: American Journal of Human Genetics
• Volume: 86
• Issue: 4
• Pages: 592 - 595