Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
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 alpha 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.
Gregory, SG; Schmidt, S; Seth, P; Oksenberg, JR; Hart, J; Prokop, A; Caillier, SJ; Ban, M; Goris, A; Barcellos, LF; Lincoln, R; McCauley, JL; Sawcer, SJ; Compston, DAS; Dubois, B; Hauser, SL; Garcia-Blanco, MA; Pericak-Vance, MA; Haines, JL; Multiple Sclerosis Genetics Group,
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