Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

Neurogenetics(2012)

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摘要
We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 ( DDEF2 / MBOAT2 , p < 0.02) and rs16914086 ( TBC1D2 , p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 ( HLA-DRB1*1501 , p < 0.01), rs7090530 ( IL2RA , p < 0.026) and rs1841770 ( ZIC1 , p < 0.017) with a younger age at MS onset and of rs12044852 ( CD58 , p < 0.035) with shorter time to reach EDSS6.
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关键词
Multiple sclerosis, Risk genes, Replication study
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