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首页> 外文期刊>Journal of Neuroimmunology: Official Bulletin of the Research Committee on Neuroimmunology of the World Federation of Neurology >Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.
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Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.

机译：多个硬化症易感基因的精细定位提供了IL2RA基因座等位基因异质性的证据。

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摘要

Multiple sclerosis (MS) is a genetically complex autoimmune disease. To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms (SNPs) from these loci in 1146 MS cases and 1309 controls. Seven newly-typed SNP variants were nominally associated with risk of MS, and one SNP (rs791589) in the first intron of the IL2RA gene remained associated after adjustment for rs2104286 genotype, a previously reported SNP association. These data provide further evidence of allelic heterogeneity at the IL2RA locus and point to the existence of at least two independent MS susceptibility alleles.
机译：多发性硬化症（MS）是一种遗传复杂的自身免疫性疾病。为了进一步剖析四个最近确定的MS易感基因（KIAA0350，IL2RA，RPL5和CD58）与疾病发病机制的关系，我们在1146个MS病例和1309个对照中从这些位点对94个单倍型标记单核苷酸多态性（SNP）进行了基因分型。七个新类型的SNP变体名义上与MS风险相关，并且在对rs2104286基因型（先前报道的SNP关联）进行调整后，IL2RA基因的第一个内含子中的一个SNP（rs791589）仍然关联。这些数据提供了IL2RA基因座等位基因异质性的进一步证据，并指出存在至少两个独立的MS易感性等位基因。

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