Two major MS genetic studies published

It's been a little while since we've seen any large-scale collaborative MS genetic study results -- but this week makes up for it with two such studies being published. First, a consortium from Australia and New Zealand conducted a whole-genome screen using DNA samples from nearly 10,000 MS and control subjects. They confirmed several genetic associations that had already been found, and identified two additional variants on chromosomes 12 and 20 that appeared to differ in frequency between the MS and control groups. These locations have also been associated with other autoimmune diseases. The next step will be to more finely map these regions to see exactly which gene variants are involved in MS.

In the second study, an international team of researchers combined data from past genome-wide screens in order to conduct a meta-analysis of all the results, and also replicated key findings from that analysis in a new cohort of 2,215 MS subjects and 2,116 controls. They demonstrated strong associations with MS for variants in three genes (TNFRSF1A, IRF8, and CD6), as well as associations with other genes that have been associated with inflammatory diseases in past studies. They also showed that the variant in IRF8 that was associated with MS appears to affect the expression of interferon pathway genes in MS subjects. (I'm happy to note that 632 of the DNA samples used in this study came from the Accelerated Cure Project repository!)