Is there still room for additional common susceptibility alleles for venous thromboembolism?

D. A. Trégouët, A. Delluc, A. Roche, C. Derbois, R. Olaso, M. Germain, M. de Andrade, W. Tang, D. I. Chasman, A. van Hylckama Vlieg, P. H. Reitsma, C. Kabrhel, N. Smith, P. E. Morange

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Essentials Genetic architecture of venous thromboembolism (VTE) remains to be fully disentangled. 11 newly discovered candidate polymorphisms were genotyped in 3019 VTE cases and 2605 controls. None of the 11 polymorphisms were significantly associated with VTE risk. Additional major efforts are needed to identify VTE-associated genetic variants. Summary: Background Through a meta-analysis of 12 genome-wide association studies, the International Network against VENous Thrombosis (INVENT) consortium identified two novel susceptibility loci for venous thromboembolism (VTE). This project has also generated other candidates that need to be confirmed. Objectives To assess the association with VTE of common single-nucleotide polymorphisms (SNPs) that demonstrated strong statistical, but not genome-wide, significance in the INVENT cohorts. Patients/methods Eleven SNPs were genotyped and tested for association with VTE in three case–control studies totaling 3019 patients and 2605 healthy individuals. Results and conclusions None of the tested SNPs showed evidence for association with VTE. Different strategies are needed to decipher the whole spectrum of common and rare genetic variations associated with VTE risk.

Original languageEnglish (US)
Pages (from-to)1798-1802
Number of pages5
JournalJournal of Thrombosis and Haemostasis
Issue number9
StatePublished - Sep 1 2016

Bibliographical note

Funding Information:
This work was conducted as part of the INVENT consortium; a list of contributors is given in the Appendix. This study received grant support from NHLBI R01HL116854 and NHLBI 1R01HL116854. This work was partially supported by the GenMed LABEX (ANR-10-LABX-0013), the French Clinical Research Infrastructure Network on Venous Thrombo-Embolism (F-CRIN INNOVTE), and the ICAN Institute for Cardiometabolism and Nutrition (ANR-10-IAHU-05). We thank C. Dulary and F. Dos Santos for their technical support in genotyping MARTHA12, FARIVE and EDITH samples.

Publisher Copyright:
© 2016 International Society on Thrombosis and Haemostasis


  • genetic polymorphisms
  • genome-wide association study
  • meta-analysis
  • risk factors
  • venous thromboembolism


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