Letter abstract
Nature Genetics 39, 1108 - 1113 (2007)
Published online: 29 July 2007 | doi:10.1038/ng2106
Variation in interleukin 7 receptor 
chain (IL7R) influences risk of multiple sclerosis
Frida Lundmark1, Kristina Duvefelt2, Ellen Iacobaeus3, Ingrid Kockum1,3, Erik Wallström3, Mohsen Khademi3, Annette Oturai4, Lars P Ryder5, Janna Saarela6, Hanne F Harbo7,8, Elisabeth G Celius8, Hugh Salter9, Tomas Olsson3 & Jan Hillert1
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 
chain (IL7R), 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 IL7R and its ligand, IL7, in the cerebrospinal fluid compartment of individuals with multiple sclerosis.
- Division of Neurology, Department of Clinical Neuroscience, Karolinska Institutet at Karolinska University Hospital–Huddinge, SE-141 86 Stockholm, Sweden.
- Clinical Research Centre, Mutation Analysis Facility, Karolinska University Hospital, SE-141 86 Huddinge, Sweden.
- Neuroimmunology Unit, Department of Clinical Neuroscience, Karolinska Institutet at Karolinska University Hospital–Solna, SE-171 76 Stockholm, Sweden.
- Danish Multiple Sclerosis Research Centre, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark.
- Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark.
- Department of Molecular Medicine, National Public Health Institute, FI-00290 Helsinki, Finland.
- Institute of Immunology, University of Oslo, N-0027 Oslo, Norway.
- Department of Neurology, Ullevål University Hospital, N-0407 Oslo, Norway.
- Pharmacogenomics Section, Department of Disease Biology, AstraZeneca R&D, SE-151 85 Södertälje, Sweden.
Correspondence to: Jan Hillert1 e-mail: jan.hillert@ki.se
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