Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis
Abstract
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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The three significant findings from the first multiple sclerosis genome-wide association study were simultaneously replicated in independent studies from the United Kingdom, the United States and the Nordic countries.
“The three significant findings were simultaneously replicated in independent studies from the United Kingdom, the United States and the Nordic countries.31, 32”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [32]
Linkage analyses in extended multiple sclerosis affected families validated the HLA association but showed no significant linkage to loci outside the MHC.
“These validated the HLA association but showed no significant linkage to loci outside the MHC.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [32]
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References 23 · Cited by 483
- Authors
- Lundmark, F., Duvefelt, K., Iacobaeus, E., Kockum, I., Wallström, E., Khademi, M., Oturai, A., Ryder, L. P., Saarela, J., Harbo, H. F., Celius, E. G., Salter, H., Olsson, T., & Hillert, J.
- Affiliations
- Karolinska University Hospital (SE)
- Copenhagen University Hospital (DK)
- Oslo University Hospital (NO)
- AstraZeneca (Sweden) (SE)
- Corresponding author
- Hillert, Jan
- ORCID
- Venue
- Nature Genetics
- Published
- 2007-07-29
- Volume
- 39
- Issue
- 9
- Pages
- 1108-1113
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1994009925
- Cited by
- 483
- References
- 23
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 7 · 2023: 6 · 2022: 8 · 2021: 9 · 2020: 10 · 2019: 16 · 2018: 14 · 2017: 14 · 2016: 11 · 2015: 19 · 2014: 28 · 2013: 36 · 2012: 39
- FWCI
- 48.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- Vetenskapsrådet
- Norges Forskningsråd
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- multiple sclerosis, CD127, IL-7, genetic susceptibility, single nucleotide polymorphisms, autoimmune disease genetics
- MeSH terms
- Adult, Denmark, Female, Finland, Gene Frequency, Genotype, Humans, Leukocytes, Mononuclear, Male, Middle Aged, Multiple Sclerosis, Norway, Risk Factors, RNA, Messenger, Sweden, Genetic Variation, Linkage Disequilibrium, Interleukin-7, Gene Expression, Logistic Models, Case-Control Studies, Genetic Predisposition to Disease, Reverse Transcriptase Polymerase Chain Reaction, Receptors, Interleukin-7, Polymorphism, Single Nucleotide
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