Association of common genetic variations and idiopathic venous thromboembolism

Aurélien Delluc; Lénaïck Gourhant; Karine Lacut; Bernard Mercier; Marie-Pierre Audrezet; Emmanuel Nowak; Emmanuel Oger; Christophe Leroyer; Dominique Mottier; Grégoire Le Gal; Francis Couturaud

doi:10.1160/TH09-07-0430

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2010; 103(06): 1161-1169
DOI: 10.1160/TH09-07-0430

Blood Coagulation, Fibrinolysis and Cellular Haemostasis

Schattauer GmbH

Association of common genetic variations and idiopathic venous thromboembolism

Results from EDITh, a hospital-based case-control study

Aurélien Delluc

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

,

Lénaïck Gourhant

²Université Européenne de Bretagne, Université de Brest, INSERM CIC 05–02, IFR148 and CHU de la Cavale Blanche, Brest, France

,

Karine Lacut

²Université Européenne de Bretagne, Université de Brest, INSERM CIC 05–02, IFR148 and CHU de la Cavale Blanche, Brest, France

,

Bernard Mercier

³Université Européenne de Bretagne, Université de Brest, INSERM U613, IFR148 and Laboratoire de génétique moléculaire, CHU Morvan, Brest, France

,

Marie-Pierre Audrezet

³Université Européenne de Bretagne, Université de Brest, INSERM U613, IFR148 and Laboratoire de génétique moléculaire, CHU Morvan, Brest, France

,

Emmanuel Nowak

²Université Européenne de Bretagne, Université de Brest, INSERM CIC 05–02, IFR148 and CHU de la Cavale Blanche, Brest, France

,

Emmanuel Oger

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

,

Christophe Leroyer

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

,

Dominique Mottier

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

,

Grégoire Le Gal

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

,

Francis Couturaud

¹Université Européeenne de Bretagne, Université de Brest, EA3878, IFR 148, Brest, and Département de médecine interne et de pneumologie, CHU de la Cavale Blanche, Brest, France

› Author Affiliations

Abstract

Summary

Venous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.

Keywords

Venous thrombosis - gene mutations - factor XI

Full Text

References

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