Roos Izaura M, Kockum Ingrid, Hillert Jan
Department of Clinical Neuroscience, Division of Neurology, Karolinska Institutet, Karolinska Universityhospital Huddinge, SE-141 86 Stockholm, Sweden.
J Neuroimmunol. 2008 Feb;194(1-2):173-80. doi: 10.1016/j.jneuroim.2007.11.011.
Variants of the gene coding for interleukin 23 receptor (IL23R) have been confirmed to be associated with inflammatory bowel disease (IBD). Based on similarities in the autoimmune features of IBD and multiple sclerosis (MS), we selected this gene for analysis as a candidate gene in MS. We tested 32 single nucleotide polymorphisms tagging all parts of the gene including 10 markers previously studied in IBD for association with MS. The study population consisted of 1114 MS patients and 1235 controls of Scandinavian origin. None of the tests showed more than very modest differences between patients and controls. Haplotypes were constructed and were also similarly distributed in patients and controls. We conclude that it is unlikely that the IL23R gene confers any significant risk for MS.
编码白细胞介素23受体（IL23R）的基因变体已被证实与炎症性肠病（IBD）相关。基于IBD和多发性硬化症（MS）自身免疫特征的相似性，我们选择该基因作为MS的候选基因进行分析。我们检测了32个单核苷酸多态性，这些多态性标记了该基因的所有部分，其中包括先前在IBD研究中用于与MS关联分析的10个标记。研究人群包括1114例MS患者和1235名来自斯堪的纳维亚半岛的对照。所有检测均未显示患者与对照之间存在超过非常适度的差异。构建了单倍型，并且在患者和对照中的分布也相似。我们得出结论，IL23R基因不太可能赋予MS任何显著风险。
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