Nature genetics, 2007-09, Vol.39 (9), p.1083-1091
2007
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- Autor(en) / Beteiligte
- Titel
- Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis
- Ist Teil von
- Nature genetics, 2007-09, Vol.39 (9), p.1083-1091
- Ort / Verlag
- London: Nature Publishing Group
- Erscheinungsjahr
- 2007
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng2103Titel-ID: cdi_proquest_miscellaneous_68215667
- Format
- –
- Schlagworte
- Adult, Alternative Splicing, Animals, Biological and medical sciences, Case-Control Studies, Cell Line, Tumor, Cell receptors, Cell structures and functions, Chromosome Mapping, Europe, Family Health, Female, Fundamental and applied biological sciences. Psychology, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genetics of eukaryotes. Biological and molecular evolution, Genotype, Haplotypes, HeLa Cells, Humans, Linkage Disequilibrium, Male, Medical sciences, Middle Aged, Miscellaneous, Molecular and cellular biology, Multiple Sclerosis - genetics, Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis, Neurology, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Interleukin-7 - genetics, Transfection, United States