Rahulan Lekshmi Minikumari, Lawrence Able, Aggarwal Amita
Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, 226014, Lucknow, India.
Clin Rheumatol. 2025 Apr 17. doi: 10.1007/s10067-025-07444-6.
Familial aggregation of autoimmune/inflammatory rheumatic diseases suggests a shared genetic basis for autoimmunity. Data on familial autoimmune/inflammatory rheumatic diseases is limited in JIA.
Accompanying family members of all consecutive patients with JIA attending the clinic during March 2023-May 2024 were asked to participate in the study. Those consenting were interviewed about the history of autoimmune/immune rheumatic diseases among the first- and second-degree relatives, with the help of a questionnaire (validated with medical records or telephonic interviews with relatives). In addition, family members of 71 healthy children served as controls.
8244 relatives of 361 patients with JIA and 1033 relatives of 71 healthy controls were included in the study. Among 361 JIA patients (267 ERA, 24 systemic onset, 44 polyarticular, 12 oligoarticular and 14 psoriatic arthritis) 144 (39.8%) had at least one family member with autoimmune/immune rhematic diseases. In families of children with ERA, Spondyloarthropathy & JIA were the common disease in family while in non-ERA JIA, hypothyroidism and RA were common. First degree relatives had higher prevalence as compared to second degree relatives of patients (130/1639 versus 97/4421; p < 0.05). 2.5% maternal relatives of patients had disease as opposed to 1.9% paternal relatives of patients (p < 0.001). The risk ratio among relatives of JIA patients was 1.22, while the sibling risk ratio was 5.91.
Nearly 40% of JIA patients had familial autoimmune/immune rhematic diseases. While in ERA there was paternal parent of origin effect for SpA in non-ERA there was maternal parent of origin for autoimmune diseases.
自身免疫性/炎性风湿性疾病的家族聚集现象表明自身免疫存在共同的遗传基础。关于幼年特发性关节炎(JIA)中家族性自身免疫性/炎性风湿性疾病的数据有限。
邀请2023年3月至2024年5月期间在诊所就诊的所有连续JIA患者的陪同家庭成员参与研究。同意参与的人员借助一份问卷(通过病历或与亲属的电话访谈进行验证)接受关于一级和二级亲属中自身免疫性/免疫性风湿性疾病病史的访谈。此外,71名健康儿童的家庭成员作为对照。
该研究纳入了361例JIA患者的8244名亲属和71名健康对照的1033名亲属。在361例JIA患者中(267例ERA、24例全身型、44例多关节型、12例少关节型和14例银屑病关节炎),144例(39.8%)至少有一名家庭成员患有自身免疫性/免疫性风湿性疾病。在ERA患儿的家庭中,脊柱关节炎和JIA是家族中的常见疾病,而在非ERA JIA家庭中,甲状腺功能减退和类风湿关节炎较为常见。与患者的二级亲属相比,一级亲属的患病率更高(130/1639对97/4421;p<0.05)。患者的母系亲属中有2.5%患病,而父系亲属中有1.9%患病(p<0.