Factor V Leiden Mutation Is a Risk Factor for Cerebral Venous Thrombosis

Lüdemann, Peter; Nabavi, Darius G.; Junker, Ralf; Wolff, Erika M.; Papke, K.; Buchner, Hannes; Assmann, Gerd; Ringelstein, E B

doi:10.1161/01.str.29.12.2507

Cited by 112 publications

(57 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…2 With these same study samples we could detect a significant association of CVT with inherited variants in Factor XII and Factor II and confirmed the association with the factor V Leiden mutation 4 that was described by others before. 5 At an earlier occasion we pointed out that the genotypes found in the control population by Voetsch et al 1 are different from those reported by others for other white samples. 3 The use of these population data might have introduced a bias in their study.…”

Section: To the Editormentioning

confidence: 53%

No Association of the Plasma Glutathione Peroxidase ( GPx-3 ) Gene With Cerebral Venous Thrombosis in the German Population

Grond‐Ginsbach

Arnold

Lichy

et al. 2009

Stroke

View full text Add to dashboard Cite

In a recent publication in Stroke, cerebral venous thrombosis (CVT) was found to be associated with a variant of the plasma glutathione peroxidase (GPx-3) gene (promoter haplotype H 2 ). 1 The observed association was strong (OR Ͼ10) and highly significant (PϽ0.0001). However, the number of analyzed patients was small (nϭ23) and the findings were not confirmed in an independent study population. We analyzed 79 patients with nonseptic CVT and 203 healthy control subjects and sought to confirm the association between GPx-3 and CVT. Our study groups were characterized in detail elsewhere. 2 We tagged haplotype H 2 with SNP rs1946235 (this is polymorphism Ϫ927 T/C in the study of Voetsch et al 1 ) as described before. 3 The C allele of rs1946235 identifies haplotype H 2 , as well as the rare (Ͻ1% in our population) haplotypes H 7 and H 8 .In our series of healthy control subjects, we found 3 homozygous and 52 heterozygous carriers of haplotype H 2 . The frequency of H 2 in this control series is therefore 14.3%. In the patients group we found one homozygous and 17 heterozygous carriers of haplotype H 2 (estimated frequency of H 2 ϭ12.0%). Comparison of the H 2 frequencies in the 2 study groups by 2 testing revealed that the difference was not significant (Pϭ0.48).In an additional series of 500 healthy German control persons, we genotyped SNP rs1946235 and found 11 CC, 112 CT and 377 TT, which corresponds to an estimated H 2 frequency of 13.4%.Our findings do not confirm the recently published findings of a strong association between a GPx-3 promoter variant and CVT. We tagged the same haplotype of the GPx-3 gene, but we did not find different frequencies of this genetic variant in patients and control subjects. Moreover, to increase the power of our study we analyzed the GPx-3 promoter also in an additional large (nϭ500) control series from the same population.The causes of the discrepancies between our plain findings and the impressive results of a recent study by Voetsch et al 1 are unclear. The diagnosis of CVT in our patients was restricted to pathognomonic findings on either MRI angiography or conventional angiography, and the control series was randomly selected from the region from which most patients were recruited. 2 With these same study samples we could detect a significant association of CVT with inherited variants in Factor XII and Factor II and confirmed the association with the factor V Leiden mutation 4 that was described by others before. 5 At an earlier occasion we pointed out that the genotypes found in the control population by Voetsch et al 1 are different from those reported by others for other white samples. 3 The use of these population data might have introduced a bias in their study. Moreover, because of the small size of the patients group (nϭ23) the study by Voetsch et al was probably victim of statistical error. The analysis of adequate sample sizes and the replication of positive associations in independent populations were strongly recommended in genetic case control studies. 6 By anal...

show abstract

Section: To the Editormentioning

confidence: 53%

No Association of the Plasma Glutathione Peroxidase ( GPx-3 ) Gene With Cerebral Venous Thrombosis in the German Population

Grond‐Ginsbach

Arnold

Lichy

et al. 2009

Stroke

View full text Add to dashboard Cite

show abstract

“…Hormonal contraception is used by more than 100 million women throughout the world. Shortly after its introduction in the 1960s oral contraception (OC) was linked to an increased incidence of thrombovascular disease 16,17,18 This is mediated by its effects on the haemostatic system. Procoagulation activity caused by increased activity of coagulation factors VII, X and fibrinogen is a common finding in almost all preparations 19 .…”

Section: Discussionmentioning

confidence: 99%

Oral Contraceptive Induced Cerebral Venous Thrombosis Treated by Local Catheter Directed Thrombolysis

Procházka¹,

Rajner

Procházka

et al. 2004

Interv Neuroradiol

View full text Add to dashboard Cite

We report on a case of cerebral venous thrombosis (CVT) induced by oral contraception (OC) activated coagulopathy and its endovascular treatment. Deep venous system and dural sinuses thrombosis complicated with severe neurological deficit and coma due to right thalamic edema and ischemia in a young woman was treated by local thrombolysis with an administration of 0.6 mg/h of the rtPA and the concomitant intravenous unfractioned heparin infusion (700 IU/h). 3D-Xra digital rotational venography performed at the beginning and after treatment confirmed thrombus resolution with rapid flow restoration. Dynamic flow imaging gives interesting information on the deep venous system and the cortical venous collectors drainage. Final NIHSS (National Institute of Health Stroke Scale) and mRS (modified Rankin Scale) confirmed an excellent clinical outcome of the interventional therapy.

show abstract

“…Of the 17 studies included, 16 were written in the English language [21][22][23][24]26,[29][30][31]35,[37][38][39]41,43,45,46 and 1 in the Chinese language. 32 All included studies were case-control studies.…”

Section: Study Characteristicsmentioning

confidence: 99%

Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis

Dentali

Crowther

Ageno

2006

Blood

235

142

View full text Add to dashboard Cite

Recent studies suggest that thrombophilic abnormalities and the use of oral contraceptives (OCs) are the leading causes of cerebral vein thrombosis (CVT). The purpose of this study was to assess the association between CVT and thrombophilic states, OCs, and their interaction. For data sources, we used the MEDLINE, EMBASE, and Cochrane Library databases (January 1994 to March 2005), reference lists of retrieved articles, and contact with content experts. We selected studies comparing the prevalence of OC use and the prevalence of prothrombitic abnormalities in patients with CVT compared with healthy controls. Two reviewers independently selected studies and extracted study characteristics, quality, and outcomes. Odds ratios (ORs) were calculated for each trial and pooled using the Mantel-Haenszel method. Seventeen studies were included. There was an increased risk of CVT in patients using OCs (OR 5.59; 95% confidence interval [CI] 3.95 to 7.91; P < .001), and in patients with factor V Leiden (OR 3.38; 95% CI 2.27 to 5.05; P < .001), with mutation G20 210A of prothrombin (OR 9.27; 95% CI 5.85 to 14.67; P < .001) and with hyperhomocysteinemia (OR 4.07; 95% CI 2.54 to 6.52; P < .001). We concluded that OC users, and patients with factor V Leiden, the prothrombin G20 120A mutation, and hyperhomocysteinemia are at a significantly increased risk of CVT. (Blood. 2006;

show abstract

Factor V Leiden Mutation Is a Risk Factor for Cerebral Venous Thrombosis

Cited by 112 publications

References 32 publications

No Association of the Plasma Glutathione Peroxidase ( GPx-3 ) Gene With Cerebral Venous Thrombosis in the German Population

No Association of the Plasma Glutathione Peroxidase ( GPx-3 ) Gene With Cerebral Venous Thrombosis in the German Population

Oral Contraceptive Induced Cerebral Venous Thrombosis Treated by Local Catheter Directed Thrombolysis

Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis

Contact Info

Product

Resources

About