Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort
Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort
复制标题
DOI：
10.1002/art.20999
复制
发表时间：
2005-04-01
影响因子：
--
通讯作者：
Pons-Estel, BA
中科院分区：
文献类型：
--
作者：
Alarcon-Segovia, D;Alarcón-Riquelme, ME;Pons-Estel, BA
Objective.确定系统性红斑狼疮（SLE）和/或其他自身免疫性疾病在SLE患者中是否存在家族聚集性，并确定有和无家族性自身免疫性疾病患者之间的临床差异。我们采访了拉丁美洲狼疮研究组（GLADEL）的1,214名SLE患者的初始队列成员，以确定他们是否有SLE和/或其他自身免疫性疾病的亲属。已确定的亲属进行了研究。使用SLE、类风湿性关节炎（RA）或所有自身免疫性疾病的最高和中间人群患病率数据进行家族聚集性测试，并进行研究以确定适用于SLE的遗传模型。我们确定了116名一级、二级或三级亲属患有SLE，79名RA，23名自身免疫性甲状腺炎，3名硬皮病，1名多发性肌炎，16名其他自身免疫性疾病，与GLADEL队列中1，177名同意参与的SLE患者中的166名相关。42例SLE患者有2个或2个以上的亲属患有自身免疫性疾病。我们发现A（同胞）为5.8和29.0的SLE和3.2-5.3的RA，当他们报告的高或中等人群患病率，分别比较。我们还发现了自身免疫性疾病的家族聚集性（A（同胞）= 1.5），并确定了SLE的多基因加性遗传模型，而不是乘法模型。在SLE中，一般存在SLE、RA和自身免疫性疾病的家族聚集性。多基因加性模型适用于SLE。美国印第安白人和社会经济水平较高的SLE患者更容易发生家族性自身免疫。
Objective. To determine whether there is familial aggregation of systemic lupus erythematosus (SLE) and/or other autoimmune diseases in SLE patients and to identify clinical differences between patients with and those without familial autoimmunity.Methods. We interviewed members of the Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL) inception cohort of 1,214 SLE patients to ascertain whether they had relatives with SLE and/or other autoimmune diseases. Identified relatives were studied. Familial aggregation was tested using reported highest and intermediate population prevalence data for SLE, rheumatoid arthritis (RA), or all autoimmune diseases, and studies were performed to identify the genetic model applicable for SLE.Results. We identified 116 first-, second-, or thirddegree relatives with SLE, 79 with RA, 23 with autoimmune thyroiditis, 3 with scleroderma, 1 with polymyositis, and 16 with other autoimmune diseases, related to 166 of the 1,177 SLE patients in the GLADEL cohort who agreed to participate. Forty-two SLE patients had 2 or more relatives with an autoimmune disease. We found a A(sibling) of 5.8 and 29.0 for SLE and of 3.2-5.3 for RA, when comparing with their reported high or intermediate population prevalence, respectively. We also found familial aggregation for autoimmune disease in general (A(sibling) = 1.5) and determined that for SLE, a polygenic additive genetic model, rather than a multiplicative one, is applicable.Conclusion. In SLE there is familial aggregation of SLE, RA, and autoimmune disease in general. A polygenic additive model applies for SLE. American Indian-white Mestizo SLE patients and those with higher socioeconomic level were more likely to have familial autoimmunity.