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

Nat Genet. 2007 Sep;39(9):1108-13. doi: 10.1038/ng2106. Epub 2007 Jul 29.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Denmark
  • Female
  • Finland
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genotype
  • Humans
  • Interleukin-7 / genetics
  • Leukocytes, Mononuclear / cytology
  • Leukocytes, Mononuclear / metabolism
  • Linkage Disequilibrium
  • Logistic Models
  • Male
  • Middle Aged
  • Multiple Sclerosis / cerebrospinal fluid
  • Multiple Sclerosis / genetics*
  • Norway
  • Polymorphism, Single Nucleotide*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Interleukin-7 / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Risk Factors
  • Sweden


  • Interleukin-7
  • RNA, Messenger
  • Receptors, Interleukin-7
  • interleukin-7 receptor, alpha chain