Cénit M C, Simeón C P, Fonollosa V, Espinosa G, Beltrán E, Sáez-Comet L, Vicente-Rabaneda E, García-Hernández F J, Martínez-Estupiñán L, Rodríguez-Carballeira M, Hernández V, de la Peña P G, Fernández-Castro M, Narváez F J, Pros A, Gallego M, Ríos-Fernández R, Camps M T, Fernández-Nebro A, Egurbide M V, Carreira P, González-Gay M A, Martín J
Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain.
Tissue Antigens. 2012 Sep;80(3):254-8. doi: 10.1111/j.1399-0039.2012.01915.x. Epub 2012 Jun 29.
Systemic sclerosis (SSc) is a complex autoimmune disease which genetic component has not been yet completely understood. IL6 encodes a cytokine with a crucial role in the development of autoimmunity and fibrosis and its actions mainly are controlled by IL-6 receptor (IL-6R). We aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes. A Spanish cohort including 1013 SSc patients and 1375 controls was genotyped using the TaqMan® allelic discrimination technology. SSc patients were subdivided according to the major clinical forms, autoantibody status and presence of fibrotic lung affection. Our data showed no influence of the selected variants in global SSc susceptibility (rs8192284: P=0.67, odds ratios (OR)=0.98; rs2228044: P=0.99, OR=1.00). Similarly, the clinical/autoantibody subphenotype analyses did not yielded significant results. Our data suggest that the analyzed polymorphisms may not play a significant role in the SSc susceptibility.
系统性硬化症（SSc）是一种复杂的自身免疫性疾病，其遗传成分尚未完全明确。白细胞介素6（IL6）编码一种在自身免疫和纤维化发展中起关键作用的细胞因子，其作用主要由白细胞介素6受体（IL-6R）控制。我们旨在研究先前与几种自身免疫性疾病相关的功能性基因变异rs8192284和rs2228044，分别位于IL-6受体（IL-6R）亚基IL6R和IL6ST基因内，是否参与系统性硬化症及其主要临床亚表型的易感性。使用TaqMan®等位基因鉴别技术对一个包括1013例系统性硬化症患者和1375名对照的西班牙队列进行基因分型。系统性硬化症患者根据主要临床类型、自身抗体状态和肺纤维化情况进行细分。我们的数据显示，所选变异对系统性硬化症总体易感性没有影响（rs8192284：P=0.67，比值比（OR）=0.98；rs2228044：P=0.99，OR=1.00）。同样，临床/自身抗体亚表型分析也未得出显著结果。我们的数据表明，所分析的多态性可能在系统性硬化症易感性中不起重要作用。
