Title: Interleukin 7 receptor a chain (IL7R) shows allelic and functional association with multiple sclerosis
Authors: Gregory, Simon G
Schmidt, Silke
Seth, Puneet
Oksenberg, Jorge R
Hart, John
Prokop, Angela
Caillier, Stacy J
Ban, Maria
Goris, An
Barcellos, Lisa F
Lincoln, Robin
McCauley, Jacob L
Sawcer, Stephen J
Compston, D. A. S
Dubois, Bénédicte
Hauser, Stephen L
Garcia-Blanco, Mariano A
Pericak-Vance, Margaret A
Haines, Jonathan L # ×
Issue Date: Sep-2007
Publisher: Nature publishing group
Series Title: Nature genetics vol:39 issue:9 pages:1083-1091
Abstract: Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. We describe allelic association of a polymorphism in the gene encoding the interleukin 7 receptor a chain ( IL7R) as a significant risk factor for multiple sclerosis in four independent family- based or case- control data sets ( overall P 2.9 x 10(-7)). Further, the likely causal SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, has a functional effect on gene expression. The SNP influences the amount of soluble and membrane- bound isoforms of the protein by putatively disrupting an exonic splicing silencer.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neuroimmunology
× corresponding author
# (joint) last author

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