Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis |
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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 Benedicte,Hauser Stephen L,Garcia-Blanco Mariano A,Pericak-Vance Margaret A,Haines Jonathan L Multiple Sclerosis Genetics Group |
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Affiliation: | Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA. |
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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 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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