Paradowska-Gorycka A, Sowinska A, Stypinska B, Grobelna M K, Walczyk M, Olesinska M, Piotrowski P, Jagodzinski P P
Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland.
Scand J Immunol. 2016 Jul;84(1):49-60. doi: 10.1111/sji.12439.
To investigate the potential association between IL-12B and IL-27 gene polymorphisms and systemic lupus erythematosus (SLE), we performed a case-control study based on the Polish population. Patients with SLE and healthy individuals were examined for -6415 CTCTAA/GC (rs17860508) and +1188A/C (rs3212227) in IL-12B and -924A/G (rs153109) and 4730T/C (rs181206) in IL-27 gene polymorphisms using the high-resolution melting method, PCR-RFLP method and TaqMan SNP genotyping assay, respectively. An increased frequency of GC/GC genotype as well as GC allele of the IL-12B rs17860508 was found in patients with SLE, as compared with healthy subjects (P < 0.001). We did not find differences in genotype and allele frequencies of the IL-12B rs3212227 and IL-27 rs153109 and rs181206 variants between patients with SLE and controls. IL-27 haplotype rs181206C/rs153109G indicated higher risk for SLE (P = 0.002), whereas haplotype rs181206T/rs153109G indicated reduced risk for SLE (P = 0.005). The IL-12B rs3212227 A/C polymorphism was associated with the mean value of the platelets (PLT), urea and complement C3 level. Furthermore, IL-12B rs17860508 genetic variant showed correlation with PLT, prothrombin time, international normalized ratio and alkaline phosphatase. Our results revealed that IL-12B rs17860508 and IL-27 haplotype CG are genetic risk factors for SLE and that both IL-12B rs17860508 and rs3212227 predict disease phenotype.
为了研究白细胞介素12B（IL-12B）和白细胞介素27（IL-27）基因多态性与系统性红斑狼疮（SLE）之间的潜在关联，我们基于波兰人群开展了一项病例对照研究。采用高分辨率熔解曲线法、聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法和TaqMan单核苷酸多态性（SNP）基因分型检测法，分别检测了SLE患者和健康个体IL-12B基因的-6415 CTCTAA/GC（rs17860508）和+1188A/C（rs3212227）以及IL-27基因的-924A/G（rs153109）和4730T/C（rs181206）基因多态性。与健康受试者相比，SLE患者中IL-12B rs17860508的GC/GC基因型以及GC等位基因频率增加（P < 0.001）。我们未发现SLE患者与对照组之间IL-12B rs3212227以及IL-27 rs153109和rs181206变异的基因型和等位基因频率存在差异。IL-27单倍型rs181206C/rs153109G表明SLE风险较高（P = 0.002），而单倍型rs181206T/rs153109G表明SLE风险降低（P = 0.005）。IL-12B rs3212227 A/C多态性与血小板（PLT）、尿素和补体C3水平的平均值相关。此外，IL-12B rs17860508基因变异与PLT、凝血酶原时间、国际标准化比值和碱性磷酸酶相关。我们的结果表明，IL-12B rs17860508和IL-27单倍型CG是SLE的遗传风险因素，且IL-12B rs17860508和rs3212227均可预测疾病表型。
