In addition, we investigated the association of common SNPs in NOTCH3 with MRI white matter hyperintensity volumes in 3670 white patients with ischemic stroke.
To address this issue, we examined the association between prothrombinG20210A and ischemic stroke in a white case-control population and additionally performed a meta-analysis.
Of the 19 common NOTCH3 variants identified, the only variant significantly associated with ischemic stroke after multiple testing adjustment was p.R1560P (rs78501403; Exon 25) in the combined SWISS and ISGS Caucasian series (Odds Ratio [OR] 0.50, P=0.0022) where presence of the minor allele was protective against ischemic stroke.
Pooled ORs for CVT risk in adults for factor V Leiden and prothrombin were significantly greater when compared against childhood CVT and adult arterial ischemic stroke.
We demonstrate that the C455R and R1031C mutations define different hypomorphic activity states of Notch 3, a property linked to ischemic stroke susceptibility in mouse models we generated.
Pooled ORs for CVT risk in adults for factor V Leiden and prothrombin were significantly greater when compared against childhood CVT and adult arterial ischemic stroke.
We reviewed the currently available data on the relationship between various inherited and acquired coagulation abnormalities (factor V Leiden and prothrombinG20210A mutations, deficiencies of protein C, protein S and anti-thrombin, hyperhomocysteinemia, the antiphospholipid syndrome and increased levels of fibrinogen) and ischemic stroke.
In case-control studies, multifactorially adjusted odds ratios for ProthrombinG20210A heterozygotes versus non-carriers were 2.0(1.1-3.4) for IHD, 2.0(1.0-3.8) for MI, 1.4(0.7-3.1) for ICVD, and 2.1(0.8-5.4) for IS.
This study suggests that the analysis of prothrombin 20210G-->A and factor XIII Val34Leu is not a useful diagnostic procedure in the work-up of ischemic stroke.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia.
The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombinG20210A, methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations, and angiotensin-converting enzyme (ACE) I/D polymorphism in ischemic stroke (IS) patients.
The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations, and angiotensin-converting enzyme (ACE) I/D polymorphism in ischemic stroke (IS) patients.
Some inherited prothrombotic conditions (e.g., Factor V Leiden, G20210Aprothrombin or methylenetetrahydrofolate reductase C677T polymorphism) could also greatly increase the IS risk if present in OC users.
We evaluated in 97 consecutive patients referred to our center between April 2006 and July 2007 for a history of young adult ischemic stroke (age at first event, <45 y) the prevalence of factor V Leiden, 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T and endothelial nitric oxide synthase (eNOS) 4ab gene variants.
We describe an unusual case of longitudinal myelitis and ischemic stroke in the presence of homozygous prothrombinG20210A, heterozygous MTHFR 677T mutations and the absence of antiphospholipid antibodies in a young woman with SLE.
The effects of oral contraceptives and their interaction with the G1691A polymorphisms of the factor V gene, the G20210A polymorphisms of the prothrombin gene and the C677T polymorphisms of the MTHFR gene on the risk of cerebral ischaemia were determined in a series of 108 consecutive women aged <45 years with ischaemic stroke and 216 controls, in a hospital-based case-control study design.