Prahalad Sampath, McCracken Courtney E, Ponder Lori A, Angeles-Han Sheila T, Rouster Stevens Kelly A, Vogler Larry B, Langefeld Carl D, Thompson Susan D
Department of Pediatrics, Emory University School of Medicine, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Children's Healthcare of Atlanta, Atlanta, GA, USA.
Pediatr Rheumatol Online J. 2016 Mar 10;14(1):14. doi: 10.1186/s12969-016-0075-7.
Clinically distinct autoimmune phenotypes share genetic susceptibility factors. We investigated the prevalence of familial autoimmunity among subjects with juvenile idiopathic arthritis (JIA), childhood systemic lupus erythematosus (cSLE) and juvenile dermatomyositis (JDM) in the CARRA Registry, the largest multicenter observational Registry for pediatric rheumatic disease.
Children with JIA, cSLE and JDM enrolled in the CARRA Registry between May 2010 and May 2012 were investigated for differences in proportion of subjects who had first-degree relatives (FDR) with autoimmunity. If a significant difference was detected, pairwise comparisons, adjusted for multiple comparisons, were made.
There were 4677 JIA, 639 cSLE and 440 JDM subjects. The proportion of subjects having FDR with any autoimmune disease in the JDM group (20.5 %) was less compared to subjects with JIA (31.8 %, p < 0.001) or SLE (31.9 %; p < 0.001). Significantly greater proportion of JIA cases had FDR with inflammatory arthritis (13 %) compared to cSLE (9.2 %, p = 0.007) or JDM (4.3 %, p <0.001). Significantly greater proportion of cSLE cases had FDR with SLE (11.1 % vs. 1.7 % for JIA and 1.1 % for JDM p < 0.001) or type-I diabetes (7.4 % for cSLE vs. 3.1 % for JIA and 3.0 % for JDM p < 0.001).
Higher proportions of subjects with JIA and cSLE have FDR with autoimmunity compared to those of JDM. Relatives of cSLE cases had an increased prevalence of SLE, and relatives of JIA cases were enriched for inflammatory arthropathies demonstrating distinct patterns of familial autoimmunity among these phenotypes.
临床上不同的自身免疫表型共享遗传易感性因素。我们在儿童关节炎研究与治疗协作组（CARRA）注册中心（最大的儿科风湿性疾病多中心观察性注册中心）调查了幼年特发性关节炎（JIA）、儿童系统性红斑狼疮（cSLE）和幼年皮肌炎（JDM）患者中家族性自身免疫的患病率。
对2010年5月至2012年5月在CARRA注册中心登记的JIA、cSLE和JDM患儿，调查其一级亲属（FDR）患有自身免疫性疾病的比例差异。如果检测到显著差异，则进行经多重比较校正的两两比较。
共有4677例JIA、639例cSLE和440例JDM患者。与JIA患者（31.8%，p<0.001）或SLE患者（31.9%；p<0.001）相比，JDM组中患有任何自身免疫性疾病的FDR患者比例较低（20.5%）。与cSLE（9.2%，p=0.007）或JDM（4.3%，p<0.001）相比，JIA患者中患有炎性关节炎的FDR比例显著更高（13%）。cSLE患者中患有SLE（cSLE为11.1%，JIA为1.7%，JDM为1.1%，p<0.001）或1型糖尿病（cSLE为7.4%，JIA为3.1%，JDM为3.0%，p<0.001）的FDR比例显著更高。
与JDM患者相比，JIA和cSLE患者中有FDR患自身免疫性疾病比例更高。cSLE患者的亲属中SLE患病率增加，JIA患者的亲属中炎性关节病增多，表明这些表型之间存在不同的家族性自身免疫模式。
