Analysis of immune-related loci identifies 48 variants

A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis.

Analysis of immune-related loci identifies 48 variants

Postby Cece » Sun Oct 13, 2013 2:13 pm

Nat Genet. 2013 Sep 29. doi: 10.1038/ng.2770. [Epub ahead of print]

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10-4). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10-8), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.

For the genetic risk variants that are outside of the major histocompatibility complex, what are the chances that some of them have to do with venous development?
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Re: Analysis of immune-related loci identifies 48 variants

Postby cheerleader » Sun Oct 13, 2013 3:52 pm

lots of chance, actually---
But who is going to look outside the immune system for MS? That's the problem.
Dr. Lee said in Bologna that hardly any researchers are studying the genetics of venous malformations, and Dr. Compston's group seems focused on the immune system.

We had a good discussion going about Dr. Ferlini and her work within the major histocompatibility complex here:

Many genes that influence the immune system are also important to the vascular system because of their impact on the endothelium. Endothelial cells modulate both immune and vascular systems. In the thread linked above, I discussed one specific gene, glomulin 47 or FAP48, which is known to be involved in truncular venous malformations as well as T cell stimulation.

It's all about perception....if you look through the autoimmune lens, you'll only see the implications on the immune system.

But here's a GREAT new paper that says all this genetic hoo haa is a HUGE WASTE OF TIME.

Multiple Sclerosis genetics is dead. ... 4812001551

from the intro:
The words of the title are not mine actually; they were spoken informally by an eminent MS geneticist, much to the amazement of those within earshot. After some 30 years of intensive multi-national genetics research, what prompted such a defeatist remark? This paper reviews some facts and fallacies related to MS and why now an attack on environmental issues has become of prime importance.

Husband dx RRMS 3/07
dx dual jugular vein stenosis (CCSVI) 4/09
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