This conclusion is an excerpt from the the MS-CCSVI-UK Facebook post. To read the full article click the link below.
"In conclusion, we present an exploration of CNVs, identified by CGH-based methodology, in a small group of patients with associated MS and VM. We identified 234 known CNVs, and determined that the distribution of CNVs along the HLA region showed no peculiar topography in the patients studied.
We found that the overall number of CNVs correlates significantly with the venous malformative phenotype. Consistently with the general significance of CNVs, putatively involved in regulation of gene expression, this finding is interesting, since it may lend weight to the possibility that the number of structural variations within regulatory regions represents a genomic “perturbation” which increases susceptibility for the VM phenotype associated with MS we describe. Obviously, confirmation of these findings will require further studies aimed at comparing CNV profiles in patients with the MS/VM phenotype to those in patients presenting MS alone. This will distinguish peculiar association(s), and potentially disclose common/different underlying genotypes. Regarding specific candidate genes whose expression could potentially be disturbed by genomic imbalance or “perturbation”, pathways analysis suggested that genes involved in angiogenesis and immunity could be proteins worthy of further investigation.
Moreover, we hope that our custom array will be useful for other studies, perhaps to identify structural changes in the numerous disorders proven to be linked to the HLA locus, including MS."
•CNVs: Copy number variations
•CGH: Comparative genomic hybridization;
•SNPs: Single nucleotide polymorphisms;
•VM: Venous malformations;
•EDSS: Expanded disability status scale;
•MS-SS: Multiple sclerosis severity score;
•CCSVI: Chronic cerebrospinal venous insufficiency;
•VHISS: Venous haemodynamic insufficiency severity score;
•VH: Venous haemodynamic criteria.