Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis by 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 Benedicte, Hauser Stephen L, Garcia-Blanco Mariano A, Pericak-Vance Margaret A, Haines Jonathan L, Multiple Sclerosis Genetics Group in Nature genetics (2007).

[PMID: 17660817] PubMed


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.

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