Here's the abstract-
Quote:
Background
Chronic cerebrospinal venous insufficiency (CCSVI) was described as a vascular condition characterized by anomalies of veins outside the skull was reported to be associated with multiple sclerosis (MS). The objective was to assess the associations between HLA DRB1*1501 status and the occurrence of CCSVI in MS patients.
Methodology/Principal Findings
This study included 423 of 499 subjects enrolled in the Combined Transcranial and Extracranial Venous Doppler Evaluation (CTEVD) study. The HLA DRB1*1501 status was obtained in 268 MS patients and 155 controls by genotyping rs3135005, a SNP associated with DRB1*1501 status. All subjects underwent a clinical examination and Doppler scan of the head and neck. The frequency of CCSVI was higher (OR = 4.52, p<0.001) in the MS group 56.0% vs. 21.9% in the controls group and also higher in the progressive MS group 69.8% vs. 49.5% in the non-progressive MS group. The 51.9% frequency of HLA DRB1*1501 positivity (HLA+) in MS was higher compared (OR = 2.33, p<0.001) to 31.6% to controls. The HLA+ frequency in the non-progressive (51.6%) and progressive MS groups (52.3%) was similar. The frequency of HLA+ CCSVI+ was 40.7% in progressive MS, 27.5% in non-progressive MS and 8.4% in controls. The presence of CCSVI was independent of HLA DRB1*1501 status in MS patients.
Conclusions/Significance
The lack of strong associations of CCSVI with HLA DRB1*1501 suggests that the role of the underlying associations of CCSVI in MS should be interpreted with caution. Further longitudinal studies should determine whether interactions between these factors can contribute to disease progression in MS.
I find this abstract to be a bit misleading. There was a correlation with HLA frequency in MS and CCSVI ....53% in MS and around 40% in CCSVI. What I find incredibly odd is that the HLA % is HIGHER in controls (32%) than CCSVI is in controls (21%)...yet they have no problem stating the HLA is associated with MS, but CCSVI is not (?)
The title of the abstract is
CCSVI is NOT associated with HLA DRB 1501 status This is a very conclusive statement, for inconclusive results. And what I fear is that it will be taken as another negative study to add to the neurological pile, when actually, the information and complete paper was more nuanced than the abstract.
Here's more from the paper---
Quote:
Other than the report of Ferlini et al. [13], who conducted preliminary analysis of copy number variations associated with CCSVI in a group of 15 MS patients, no information is available on the role of genetic factors in CCSVI. These authors reported that CCSVI was associated of copy number variations in the HLA region for a small group of 15 MS patients [13]. In other diseases with venous pathophysiologies, a role for gender, and environmental and genetic factors is suggested. Female gender, older age, and pregnancy are risk factors for chronic venous diseases [24] and women have greater frequency of variant hepatic veins [25]. Women have also been reported to have a smaller internal jugular vein size than men (1.48 for men vs. 1.27 in women) [26]. Venous malformations may have genetic contributions and a “double-hit” mechanism has been invoked to explain incomplete penetrance and variability [27], [28]. The R849W substitution in the angiopoietin receptor Tie2 [29], an endothelial receptor tyrosine kinase, has been linked to familial venous malformations and results in variable thickness or lack of smooth-muscle cells in the veins of patient lesions. Interestingly Tie2 activates Stat1, which is also critical in interferon signaling. We did not observe, age, gender or disease duration differences in the occurrence of CCSVI (results not shown) in MS. However, a more detailed analysis of candidate gender-dimorphic factors, e.g., vein diameters and autoimmune factors, is warranted as these could strongly interact with changes in cerebral venous outflow.
Here's the complete paper:
http://www.plosone.org/article/info:doi ... ne.0016802Here's Ferlini's independent research showing correlation of copy number variations in MS and venous malformations on the HLA locus--
Quote:
The CNVs contained in the HLA locus region in patients with the novel phenotype of CCSVI/VM and MS were mapped in detail, demonstrating a significant correlation between the number of known CNVs found in the HLA region and the number of CCSVI-VMs identified in patients. Pathway analysis revealed common routes of interaction of several of the genes involved in angiogenesis and immunity contained within this region.
http://www.biomedcentral.com/content/pd ... -11-64.pdf_________________
Husband dx RRMS 3/07
dx dual jugular vein stenosis (CCSVI) 4/09
dual stents placed 5/09
CCSVI in MS 
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