title: Association of common genetic variations and idiopathic venous thromboembolism. Results from EDITh, a hospital-based case-control study.
abstract: Venous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric genotyping 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.
authors.affiliation: Université Européeenne de Bretagne, Université de Brest, Brest, France.
authors.forename: Aurélien
authors.initials: A
authors.lastname: Delluc
authors.forename: Lénaïck
authors.initials: L
authors.lastname: Gourhant
authors.forename: Karine
authors.initials: K
authors.lastname: Lacut
authors.forename: Bernard
authors.initials: B
authors.lastname: Mercier
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Audrezet
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Nowak
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Oger
authors.forename: Christophe
authors.initials: C
authors.lastname: Leroyer
authors.forename: Dominique
authors.initials: D
authors.lastname: Mottier
authors.forename: Grégoire
authors.initials: G
authors.lastname: Le Gal
authors.forename: Francis
authors.initials: F
authors.lastname: Couturaud
mesh_terms: D000368:Aged; D001777:Blood Coagulation / Q000235:genetics; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006761:Hospitals; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010974:Platelet Aggregation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011516:Prothrombin / Q000235:genetics*; D011941:Receptors, Adrenergic / Q000378:metabolism; D012084:Renin-Angiotensin System / Q000235:genetics; D054556:Venous Thromboembolism / Q000235:genetics* / Q000503:physiopathology
chemical_list: D011941:Receptors, Adrenergic; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005172:Factor XI