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A team of international researchers led by the Universities of Cambridge and Oxford has identified 29 new gene variants linked to multiple sclerosis (MS), contributing new keys to the biology of this degenerative neurological disease.

This is the largest study to date on the genetics of MS and has been carried out with contributions from nearly 250 researchers from the International Multiple Sclerosis Genetics Consortium and the Wellcome Trust Case Control Consortium. The article Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis was published in Nature on 11 August.

The Vall d’Hebron Research Institute (VHIR), Multiple Sclerosis Center of Catalonia (CEM-Cat) and Barcelona IDIBAPS-Hospital Clínic are the only Spanish centers among the 131 institutions that participated in the study. The teams led by Dr. Manel Comabella and Dr. Xavier Montalbán, from VHIR and CEM-Cat, and Dr. Pablo Villoslada from the Neuroimmunology Center at IDIBAPS-Hospital Clínic contributed to the study by providing DNA samples from multiple sclerosis patients that are well characterized from a clinical point of view.

This multi-population study analyzed the DNA of 9,772 multiple sclerosis patients and 17,376 healthy control patients. Thanks to the results obtained, 23 previously known associations have been confirmed and 29 new genetic variants have been identified, as well as five highly suspicious genes (which increase the probability carriers will suffer from the disease).

Many of the genes identified play a key role in the how the immune system works, particularly in T-cell functions and in the activation of interleukins. One third of the genes identified through this research had been described previously with regards to other autoimmune diseases (like Crohn’s and type 1 diabetes). This indicates that, as was previously suspected, different autoimmune diseases may share the same pathological processes.

Preliminary results suggest a link between vitamin D deficiency and increased risk of suffering from multiple sclerosis. In addition to the many genes that play a direct role in the immune system, scientist have also identified two linked to vitamin D metabolism, strengthening the theory of a possible link between genetic and environmental factors.

Dr. Alastair Compston of the University of Cambridge, who led the study from the International Multiple Sclerosis Genetics Consortium together with Dr. Peter Donnelly of the Wellcome Trust Centre for Human Genetics of the University of Oxford, explains that “Identifying the basis for genetic susceptibility to any medical condition provides reliable insights into the disease mechanisms. Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis. It is now clear that multiple sclerosis is primarily an immunological disease. This has important implications for future treatment strategies.”

According to Peter Donnelly, “Our findings highlight the value of large genetic studies in uncovering key biological mechanisms underlying common human diseases. This simply would not have been possible without a large international network of collaborators, and the participation of many thousands of patients suffering from this debilitating disease.”

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