Interleukin 7 receptor a chain (IL7R) shows allelic and functional association with multiple sclerosis
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 # ×
Nature publishing group
Nature genetics vol:39 issue:9 pages:1083-1091
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.