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Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis 总被引:17,自引:0,他引:17
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 DA Dubois B Hauser SL Garcia-Blanco MA Pericak-Vance MA Haines JL;Multiple Sclerosis Genetics Group 《Nature genetics》2007,39(9):1083-1091
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. 相似文献
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Barcellos LF Caillier S Dragone L Elder M Vittinghoff E Bucher P Lincoln RR Pericak-Vance M Haines JL Weiss A Hauser SL Oksenberg JR 《Nature genetics》2001,29(1):23-24
A C-->G nucleotide transition in exon 4 of PTPRC (encoding protein-tyrosine phosphatase receptor-type C, also known as CD45) was recently reported to be genetically associated with the development of multiple sclerosis (MS). We performed an extensive evaluation of this polymorphism using large family-based and case-control comparisons. Overall, we observed no evidence of genetic association between the PTPRC polymorphism and MS susceptibility or disease course. 相似文献
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