Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis
Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis
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DOI：
10.1016/j.jaut.2010.02.001
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发表时间：
2010-08-01
影响因子：
12.8
通讯作者：
Mayes, Maureen D.
中科院分区：
文献类型：
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作者：
Arora-Singh, Rajpreet K.;Assassi, Shervin;Mayes, Maureen D.
目的：要确定聚集的自身免疫性疾病的一级亲属（FDR）的患者与系统性硬化症（SSc），并调查频率的抗核抗体（ANA）和其他自身抗体的FDR和配偶的SSc.Methods患者：信息FDR，包括自身免疫性疾病的历史，从不相关的SSc先证者硬皮病家族登记处和DNA库。联系FDR以验证任何报告的自身免疫性疾病。先证者家族自身免疫性疾病的患病率与文献报道的对照者家族相应的患病率进行比较。此外，从先证者的FDRs和配偶的血清中，除了无关的对照进行了调查的存在下的自身抗体（ANA）。具有抗着丝粒抗体（ACA）和有限疾病类型的SSc先证者更可能报告家族性自身免疫（分别为p = 0.022和p = 0.041）。在SSc先证者的FDR中，最常见的4种自身免疫性疾病是甲状腺功能减退症（4%）、类风湿性关节炎（1.5%）、甲状腺功能亢进症（1.3%）和系统性红斑狼疮（0.4%）。与对照组相比，先证者家族中SLE、甲状腺功能减退和甲状腺功能亢进的发生率更高。SLE的家族患病率增加最明显（OR = 16.98，95%CI = 1.02-227.82，p = 0.004）。ANA存在于14.2%的先证者FDR和8.6%的配偶中，与对照组ANA的患病率没有差异（分别为p = 0.124和p = 0.477）。只有两个FDRs的先证者ACA，而没有抗拓扑异构酶antibodies.Conclusion：我们的研究意味着不同程度的风险之间的亚型SSc的家族性自身免疫，并提供了进一步的支持，共同的遗传和潜在的环境因素，导致SSc和SLE。(C)2010年由Elsevier Ltd.出版
Objective: To determine aggregation of autoimmune diseases in the first degree relatives (FDR) of patients with systemic sclerosis (SSc) and to investigate frequencies of antinuclear antibodies (ANA) and other autoantibodies in the FDRs and spouses of patients with SSc.Methods: Information on FDRs including history of autoimmune disease was obtained from unrelated SSc probands in the Scleroderma Family Registry and DNA Repository. FDRs were contacted to verify any reported autoimmune diseases. The prevalence of autoimmune disease in probands' families was compared with the corresponding prevalence in controls' families as reported in the literature. Furthermore, sera from probands' FDRs and spouses in addition to unrelated controls were investigated for the presence of autoantibodies (ANA).Results: We investigated 4612 FDRs of 1071 SSc probands. SSc probands with anti-centromere antibodies (ACA) and limited disease type were more likely to report familial autoimmunity (p = 0.022 and p = 0.041, respectively). The four most prevalent autoimmune diseases among SSc probands' FDRs were hypothyroidism (4%), Rheumatoid arthritis (1.5%), hyperthyroidism (1.3%) and systemic lupus erythematosus-SLE (0.4%). Compared to control families, SLE, hypothyroidism and hyperthyroidism were more common in SSc probands' families. The most striking increase for familial prevalence was observed in SLE (OR = 16.98, 95% CI = 1.02-227.82, p = 0.004). ANA was present in 14.2% of probands' FDR's and 8.6% of spouses and did not differ from the prevalence of ANA among controls (p = 0.124 and p = 0.477, respectively). Only two FDRs of probands had ACA while none had anti-topoisomerase antibodies.Conclusion: Our study implies varying degrees of risk for familial autoimmunity among subtypes of SSc and provides further support for common genetic and potentially environmental factors leading to SSc and SLE. (C) 2010 Published by Elsevier Ltd.