多发性硬化症易感基因的精细定位为白细胞介素2受体α基因座上等位基因异质性提供了证据。
Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.
作者信息
Perera Devindri, Stankovich Jim, Butzkueven Helmut, Taylor Bruce V, Foote Simon J, Kilpatrick Trevor J, Rubio Justin P
机构信息
Menzies Research Institute, University of Tasmania, Hobart, Australia.
出版信息
J Neuroimmunol. 2009 Jun 25;211(1-2):105-9. doi: 10.1016/j.jneuroim.2009.03.010. Epub 2009 Apr 17.
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.
多发性硬化症（MS）是一种基因复杂的自身免疫性疾病。为了进一步剖析最近鉴定出的四个MS易感基因（KIAA0350、IL2RA、RPL5和CD58）在疾病发病机制中的作用，我们对1146例MS患者和1309名对照者中这些基因座的94个单倍型标签单核苷酸多态性（SNP）进行了基因分型。七个新分型的SNP变体与MS风险存在名义上的关联，并且在对先前报道的SNP关联rs2104286基因型进行校正后，IL2RA基因第一内含子中的一个SNP（rs791589）仍然与MS相关。这些数据为IL2RA基因座上等位基因异质性提供了进一步证据，并表明至少存在两个独立的MS易感等位基因。
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