Paradowska-Gorycka Agnieszka, Sowinska Anna, Stypinska Barbara, Grobelna Malwina Katarzyna, Walczyk Marcela, Olesinska Marzena, Piotrowski Piotr, Jagodziński Paweł Piotr
a Department of Biochemistry and Molecular Biology , National Institute of Geriatrics, Rheumatology and Rehabilitation , Warsaw , Poland.
b Department of Computer Science and Statistics , Poznan University of Medical Sciences , Poznan , Poland.
Autoimmunity. 2016 Sep;49(6):373-382. doi: 10.1080/08916934.2016.1196678. Epub 2016 Jun 19.
Systemic lupus erythematosus (SLE) is a disease characterized by excessive proinflammatory cytokine production and damage to multiple organ systems. To investigate the potential association between cytokine gene polymorphisms and SLE, we performed a case-control study based on Polish population. SLE patients and controls, were examined for IL-23A rs11171806 G/A and IL-23R (rs1884444 G/T, rs10489629 G/A) by TaqMan SNP genotyping assay, for IL-17F rs763780 A/G and rs2397084A/G using the PCR- RFLP method. An increased frequency of AG genotype as well as G allele of the IL-17F rs763780 was found in patients with SLE, as compared with healthy subjects (OR = 3.947; p = 0.001 and OR = 3.538; p = 0.002, respectively). Frequencies of the rs1884444 TT genotype (OR = 138.1) and the rs1884444 T allele (OR = 2.176) were also higher in SLE patients (both p < 0.0001). Overall, weak LD was observed between the IL-17F rs763780 A/G and rs2397084 A/G polymorphisms (D'-0.003, r - 0.000). From four possible haplotypes, frequencies of AG showed differences between both examined groups (p < 0.0001). We also observed a weak LD between the IL-23R rs10489629G/A and rs1884444 G/T (D'-0.199, r -0.026). The genotype-phenotype analysis showed significant association between the IL-17F rs2397084 and mean value of the hemoglobin (p = 0.01), the IL-17F rs763780 and age (p = 0.008) and lupus anticoagulant (p = 0.09), the IL-23 rs11171806 and urea (p = 0.08) and C3 complement (p = 0.03), and the IL-23R rs1884444 G/T and activated partial thromboplastin time (p = 0.06). Present findings indicated that IL-17F rs763780 A/G and IL-23R rs1884444 G/T polymorphisms may be involved in susceptibility to SLE in the Polish population.
系统性红斑狼疮（SLE）是一种以促炎细胞因子过度产生和多器官系统损伤为特征的疾病。为了研究细胞因子基因多态性与SLE之间的潜在关联，我们基于波兰人群进行了一项病例对照研究。通过TaqMan SNP基因分型检测法对SLE患者和对照者检测IL-23A rs11171806 G/A和IL-23R（rs1884444 G/T、rs10489629 G/A），使用PCR-RFLP方法检测IL-17F rs763780 A/G和rs2397084A/G。与健康受试者相比，SLE患者中IL-17F rs763780的AG基因型以及G等位基因频率增加（OR = 3.947；p = 0.001和OR = 3.538；p = 0.002）。SLE患者中rs1884444 TT基因型（OR = 138.1）和rs1884444 T等位基因（OR = 2.176）的频率也更高（两者p < 0.0001）。总体而言，观察到IL-17F rs763780 A/G和rs2397084 A/G多态性之间存在弱连锁不平衡（D' -0.003，r - 0.000）。在四种可能的单倍型中，AG的频率在两个研究组之间存在差异（p < 0.0001）。我们还观察到IL-23R rs10489629G/A和rs1884444 G/T之间存在弱连锁不平衡（D' -0.199，r -0.026）。基因型-表型分析显示，IL-17F rs2397084与血红蛋白平均值之间存在显著关联（p = 0.01），IL-17F rs763780与年龄（p = 0.008）和狼疮抗凝物（p = 0.09）之间存在显著关联，IL-23 rs11171806与尿素（p = 0.08）和C3补体（p = 0.03）之间存在显著关联，以及IL-23R rs1884444 G/T与活化部分凝血活酶时间之间存在显著关联（p = 0.06）。目前的研究结果表明，IL-17F rs763780 A/G和IL-23R rs1884444 G/T多态性可能与波兰人群中SLE的易感性有关。
