Neurogenomiks Group, Universidad del País Vasco-UPV/EHU, Zamudio, Spain.
J Interferon Cytokine Res. 2012 Apr;32(4):139-51. doi: 10.1089/jir.2011.0103. Epub 2011 Dec 22.
Cytokine (receptor) genes have traditionally attracted great interest as plausible genetic risk factors for autoimmune disease. Since 2007, the implementation of genome-wide association studies has facilitated the robust identification of allelic variants in more than 35 cytokine loci as susceptibility factors for a wide variety of over 15 autoimmune disorders. In this review, we catalog the gene loci of interleukin, chemokine, and tumor necrosis factor receptor superfamily and ligands that have emerged as autoimmune risk factors. We examine recent progress made in the clarification of the functional mechanisms by which polymorphisms in the genes coding for interleukin-2 receptor alpha (IL2RA), IL7R, and IL23R may alter risk for autoimmune disease, and discuss opposite autoimmune risk alleles found, among others, at the IL10 locus.
细胞因子（受体）基因一直以来都是作为自身免疫性疾病潜在遗传风险因素的研究热点。自 2007 年以来，全基因组关联研究的实施促进了在 35 个以上细胞因子基因座中鉴定出等位基因变异，这些变异是多种自身免疫性疾病的易感因素。在这篇综述中，我们列出了白细胞介素、趋化因子和肿瘤坏死因子受体超家族及其配体的基因座，这些基因座已成为自身免疫性疾病的风险因素。我们研究了阐明编码白细胞介素 2 受体 alpha（IL2RA）、IL7R 和 IL23R 的基因多态性如何改变自身免疫性疾病风险的功能机制方面取得的最新进展，并讨论了在其他基因座（如 IL10 基因座）中发现的相反的自身免疫风险等位基因。
