Department of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Medicine (Baltimore). 2023 Aug 4;102(31):e34477. doi: 10.1097/MD.0000000000034477.
Genetic factors play a crucial role in the immune response of juvenile idiopathic arthritis (JIA) and juvenile-onset systemic lupus erythematosus (JSLE). This study aimed to investigate the association of IL12B (rs3212227, rs6887695) and IL17 (rs2275913, rs763780) gene polymorphisms with the susceptibility of JIA and JSLE in Chinese children. A total of 303 healthy controls and 304 patients including 160 JIA and 144 patients were analyzed, and the genetic polymorphisms were genotyped by using a Sequenom MassArray system. There was a significant association between the IL12B rs3212227 genotype and the increased risk of JSLE (P = .01). For rs6887695, the minor allele C was significantly associated with the increased risk of JIA (odds ratio = 1.48, 95% confidence interval [CI] = 1.12-1.95, P = .005). Moreover, rs6887695 genotype was significantly associated with both JIA and JSLE susceptibility (P < .05). Besides, IL12B haplotype GC significantly associated with the increased risk of JIA (P = .016). However, no significant difference was found between the IL17 (rs2275913, rs763780) gene polymorphisms and JIA or JSLE susceptibility (P > .05). And similar genotype distributions of IL12B and IL17 polymorphisms were found between the patients with nephritis and without nephritis in JSLE (P > .05). Our results indicated that IL12B polymorphisms was associated with an increased risk for the development of JIA and JSLE in Chinese children, highlighting the involvement of inflammation in the pathogenesis of JIA and JSLE. Moreover, there was a risk haplotype in IL12B which could increase the risk of JIA.
遗传因素在青少年特发性关节炎 (JIA) 和青少年发病的系统性红斑狼疮 (JSLE) 的免疫反应中起着至关重要的作用。本研究旨在探讨 IL12B(rs3212227, rs6887695) 和 IL17(rs2275913, rs763780) 基因多态性与中国儿童 JIA 和 JSLE 易感性的关系。共分析了 303 名健康对照者和 304 名患者,包括 160 名 JIA 患者和 144 名患者,采用Sequenom MassArray 系统检测基因多态性。IL12B rs3212227 基因型与 JSLE 发病风险增加显著相关(P =.01)。对于 rs6887695,次要等位基因 C 与 JIA 发病风险增加显著相关(比值比=1.48,95%置信区间[CI]=1.12-1.95,P=0.005)。此外,rs6887695 基因型与 JIA 和 JSLE 易感性显著相关(P<0.05)。此外,IL12B 单倍型 GC 与 JIA 发病风险增加显著相关(P=0.016)。然而,IL17(rs2275913, rs763780)基因多态性与 JIA 或 JSLE 易感性之间无显著差异(P>0.05)。在 JSLE 患者中,肾炎与无肾炎患者的 IL12B 和 IL17 多态性基因型分布相似(P>0.05)。我们的研究结果表明,IL12B 多态性与中国儿童 JIA 和 JSLE 的发病风险增加有关,提示炎症在 JIA 和 JSLE 的发病机制中起作用。此外,IL12B 中存在一个风险单倍型,可增加 JIA 的发病风险。