title: Mutations and polymorphisms in genes affecting haemostasis components in children with thromboembolic events.
abstract: The distribution of mutations/polymorphisms in genes affecting haemostasis [factor V Leiden (FVL), FV H1298R (FVR(2)), FII 20210A, b-Fib 455G-->A, FXIII V34L, PAI-1 4G, HPA-1b] among 141 children with thrombosis at various sites and 103 controls was compared. Additionally, the carriage of these mutations/polymorphisms was associated with the levels of their corresponding proteins in thrombosed children. Thrombosis was more frequent in boys (p = 0.021). No studied mutation/polymorphism was found to be a risk factor for thrombosis, except for FVL (odds ratio 3.8, 95% CI 1.4-10.6). The risk of thrombosis for FVL carriers was twice as high in children with an idiopathic thrombosis (odds ratio 5.4) than in thrombosed children with an underlying disease or a triggering event (odds ratio 2.7). FVL carriers had an odds ratio of 5.9 (95% CI 1.8-19.6) when FVR(2) was absent. In thrombosed children, the activated protein C resistance ratio was significantly lower in the presence of FVL (p < 0.001). Prothrombin and fibrinogen levels, although higher in FII 20210A and b-Fib 455G-->A carriers, did not reach statistical significance.
authors.affiliation: Haemostasis/Haemophilia Unit, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. theokom@otenet.gr
authors.forename: A
authors.initials: A
authors.lastname: Komitopoulou
authors.forename: H
authors.initials: H
authors.lastname: Platokouki
authors.forename: Z
authors.initials: Z
authors.lastname: Kapsimali
authors.forename: M
authors.initials: M
authors.lastname: Moschovi
authors.forename: A
authors.initials: A
authors.lastname: Kattamis
authors.forename: H
authors.initials: H
authors.lastname: Pergantou
authors.forename: S
authors.initials: S
authors.lastname: Aronis
mesh_terms: D001779:Blood Coagulation Factors / Q000235:genetics; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006487:Hemostasis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D013923:Thromboembolism / Q000209:etiology / Q000235:genetics*
chemical_list: D001779:Blood Coagulation Factors; C095381:factor V Leiden; D005165:Factor V