Article abstract
Nature Genetics 39, 1083 - 1091 (2007)
Published online: 29 July 2007 | doi:10.1038/ng2103
Interleukin 7 receptor 
chain (IL7R) shows allelic and functional association with multiple sclerosis
Simon G Gregory1,9, Silke Schmidt1,9, Puneet Seth2, Jorge R Oksenberg3, John Hart1, Angela Prokop1, Stacy J Caillier3, Maria Ban4, An Goris5, Lisa F Barcellos6, Robin Lincoln3, Jacob L McCauley7, Stephen J Sawcer4, D A S Compston4, Benedicte Dubois5, Stephen L Hauser3, Mariano A Garcia-Blanco2, Margaret A Pericak-Vance8 & Jonathan L Haines7, for the Multiple Sclerosis Genetics Group
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 
chain (IL7R) as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets (overall P = 2.9 
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.
- Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
- Center for RNA Biology and Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
- Department of Neurology, University of California, San Francisco, California 94143, USA.
- Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
- Section for Experimental Neurology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
- School of Public Health, University of California, Berkeley, California 94720, USA.
- Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.
- Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
- These two authors contributed equally to this work.
Correspondence to: Jonathan L Haines7 e-mail: jonathan@chgr.mc.vanderbilt.edu
Correspondence to: Margaret A Pericak-Vance8 e-mail: MPericak@med.miami.edu
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