Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis.


Multiple sclerosis is a chronic, often disabling, disease of the central nervous system affecting more than 1 in 1,000 people in most western countries. The inflammatory lesions typical of multiple sclerosis show autoimmune features and depend partly on genetic factors. Of these genetic factors, only the HLA gene complex has been repeatedly confirmed to be associated with multiple sclerosis, despite considerable efforts. Polymorphisms in a number of non-HLA genes have been reported to be associated with multiple sclerosis, but so far confirmation has been difficult. Here, we report compelling evidence that polymorphisms in IL7R, which encodes the interleukin 7 receptor alpha chain (IL7Ralpha), indeed contribute to the non-HLA genetic risk in multiple sclerosis, demonstrating a role for this pathway in the pathophysiology of this disease. In addition, we report altered expression of the genes encoding IL7Ralpha and its ligand, IL7, in the cerebrospinal fluid compartment of individuals with multiple sclerosis.

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@article{Lundmark2007VariationII, title={Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis.}, author={Frida Lundmark and Kristina Duvefelt and Ellen Iacobaeus and Ingrid Kockum and Erik Wallstr{\"{o}m and Mohsen Khademi and Annette Oturai and Lars P Ryder and Janna Saarela and Hanne F Harbo and Elisabeth G Celius and Hugh Salter and Tomas Olsson and Jan Hillert}, journal={Nature genetics}, year={2007}, volume={39 9}, pages={1108-13} }