Two new large-scale genomic studies have honed in on the main genetic pathway associated with multiple sclerosis (MS), while also uncovering new genetic variations in the disease and suggesting a possible link between MS and other autoimmune diseases.
The first study, led by an international consortium of clinical scientists and genomics experts, incorporates the two largest collections of MS genetic information worldwide and is the first comprehensive study to investigate the overall genetic basis of MS. Its findings appear in the July 29, 2007 online edition of the New England Journal of Medicine.
Another study is being published simultaneously on the web site of Nature Genetics, and focuses on one variant in a gene called interleukin-7 receptor (IL-7R), which researchers had thought was connected to the disease and now know increases the risk of MS.
Scientists have known for 30 years that genetics play a critical role in MS, but the disease is influenced by so many different factors that it has consistently eluded us, said Stephen Hauser, MD, professor of neurology at the University of California, San Francisco and an author on both papers. It wasnt until we could map genomes and then combine the efforts of dozens of researchers, that we could put all the pieces together.
Together, he said, these two papers illustrate how scientific collaboration and the recent breakthroughs in genomic technology, which make it possible to both screen an individuals genetic architecture and understand the differences, can open up an age-old disease such as multiple sclerosis.
It is significant that the two studies used very different approaches, but both highlighted the role of IL-7R, he said.
Together, these place the IL-7R pathway at the center of understanding MS pathogenesis, Hauser said. I believe that this receptor and its interaction with regulatory T cells will now become a major focus of research on MS.'"/>