Department of Immunology and Pathophysiology, Faculty of Medicine, University "Carol Davila", Bucharest, Romania; Laboratory of Immunogenomics and Immunoproteomics, Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
Laboratory of Immunogenomics and Immunoproteomics, Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
Cytokine. 2013 Jul;63(1):67-73. doi: 10.1016/j.cyto.2013.04.013. Epub 2013 May 11.
The cytokines IL12 and IL23 have been recently implicated in the pathogenesis of psoriatic arthritis (PsA). In this study we investigated the genetic variations in the genes coding for IL12, IL23 and IL23 receptor as a plausible source of susceptibility and modification of clinical symptoms of PsA in Romanian population.
Twenty five SNPs mapping to IL12A, IL12B, IL23A, IL23R and IL12RB1 genes were genotyped in 94 PsA patients and 161 healthy controls of Romanian ethnicity using the Sequenom genotyping platform.
The exonic SNP rs11171806 from IL23A gene was significantly underrepresented in patients versus controls (p=0.03, OR 0.391) and the carriers of rs11171806/rs2066808 AC haplotype had decreased risk for PsA (p=0.03). The two SNPs of the highly conserved gene IL23A are in complete LD in our population. Genetic variants of IL12B gene were associated with polyarticular subtype of PsA. No associations were found between SNPs from IL12A, IL23R and IL12RB1 genes and susceptibility to PsA and its phenotypes.
We confirm the previously described association of rs2066808 variant with psoriasis and PsA and we show evidence of an extended genomic region inside IL23A gene as carrier of true disease susceptibility factors. These data suggest a role for IL23 in the PsA pathogenesis in Romanians.
细胞因子 IL12 和 IL23 最近被认为与银屑病关节炎（PsA）的发病机制有关。在这项研究中，我们研究了编码 IL12、IL23 和 IL23 受体的基因中的遗传变异，作为罗马尼亚人群中 PsA 易感性和临床症状改变的潜在来源。
使用 Sequenom 基因分型平台，在 94 名 PsA 患者和 161 名罗马尼亚裔健康对照中，对 IL12A、IL12B、IL23A、IL23R 和 IL12RB1 基因中的 25 个 SNP 进行了基因分型。
IL23A 基因的外显子 SNP rs11171806 在患者中明显低于对照组（p=0.03，OR 0.391），携带 rs11171806/rs2066808 AC 单倍型的患者患 PsA 的风险降低（p=0.03）。我们人群中高度保守的 IL23A 基因的两个 SNP 完全处于 LD 状态。IL12B 基因的遗传变异与多关节型 PsA 有关。来自 IL12A、IL23R 和 IL12RB1 基因的 SNP 与 PsA 及其表型的易感性之间没有关联。
我们证实了之前描述的 rs2066808 变体与银屑病和 PsA 的关联，并证明了 IL23A 基因内的一个扩展基因组区域是真正疾病易感性因素的载体。这些数据表明 IL23 在罗马尼亚人群中 PsA 的发病机制中起作用。
