cheerleader wrote:Actually, that's not true. According to a new study, the copy number variations located in the HLA locus chromosome 6p21.32 --the locus which is already studied and found related to MS--also contain CNVs for venous malformations found in CCSVI.
Cheer, the context in which the comment was made, I felt Mark did not mean to rely on this study you have pointed out. Do you really think one can rely on such preliminary study to decide on another which is itself so preliminary?
I'm sorry, sbr, but what else should we rely on? Yes, I do think we need to consider genetic studies. Geneticists and scientists would agree. I heard Dr. Ferlini speak in Bologna last year---there is a very strong, undeniable correlation of CCSVI and venous malformations on the HLA locus 6p21.32 She was surprised to note this, but the multiple shared CNVs were with MS.
Here's another study on this specific chromosome and the relationship to MS.
Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system with a prominent genetic component. The primary genetic risk factor is the human leukocyte antigen (HLA)-DRB1*1501 allele; however, much of the remaining genetic contribution to MS has not been elucidated. The authors investigated the relation between variation in DNA repair pathway genes and risk of MS. Single-locus association testing, epistatic tests of interactions, logistic regression modeling, and nonparametric Random Forests analyses were performed by using genotypes from 1,343 MS cases and 1,379 healthy controls of European ancestry. A total of 485 single nucleotide polymorphisms within 72 genes related to DNA repair pathways were investigated, including base excision repair, nucleotide excision repair, and double-strand breaks repair. A single nucleotide polymorphism variant within the general transcription factor IIH, polypeptide 4 gene, GTF2H4, on chromosome 6p21.33 was significantly associated with MS (odds ratio = 0.7, P = 3.5 × 10−5) after accounting for multiple testing and was not due to linkage disequilibrium with HLA-DRB1*1501.
And I'll try this again. I agree with Mark. There is a GENETIC PREDISPOSITION to MS. This does not mean everyone with this genetic predisposition will develop MS. Not everyone with a genetic predisposition to heart disease needs quadruple bipass surgery. Only the unlucky ones. Many of us get by with genetic predispositions to cancer or obesity or lung disease and we never get seriously ill. But eventually, we will all die.
There are environmental issues that need to be clarified in MS. Whether it be EBV, or a high fat diet, or no sunshine, or strep throat or just crappy luck...there is more to the picture than genetic predisposition. But this should not preclude people from being treated for venous malformations if they have full blown MS. period.