Arnett F C, Shulman L E
Medicine (Baltimore). 1976 Jul;55(4):313-22. doi: 10.1097/00005792-197607000-00003.
Although many examples of familial SLE have been reported, the relative importance of genetic and environmental factors remains unclear. In an effort to better understand these factors, eight such families were studied. These families, plus one deceased pair and 31 described in the literature consisted of 8 pairs of identical twins, one pair of non-identical twins, and 16 sibling and 15 parent-offspring combinations. Fifty-three cases in 25 families provided sufficient documentation for detailed analysis. Each familial case was compared to his affected relative utilizing 23 clinical and laboratory features of SLE. A control group of non-related SLE patients, each matched to a familial case for age, sex, race and disease duration, was similarly analyzed. Impressive concordance for disease expression was found between pairs of identical twins and between parent and offspring. No such concordance was found between siblings and controls. These findings support genetic influences in the expression of SLE in identical twins and parents and offspring pairs. Comparison of the frequencies of clinical and laboratory attributes in the familial group as opposed to non-familial groups showed no real differences. Thus, familial SLE is probably not a different disease entity from non-familial SLE. The finding of four father-offspring pairs lessens the possibility that SLE is transmitted during the perinatal period. The onset of SLE in each of identical twins occurred within an average of 2 years. In siblings, however, while the average difference in age at onset was 9 years, the average difference in time of onset (actual date) was only 3 years. Comparable figures for parents and offspring were 20 and 8 years, respectively. These data suggest environmental influences in the initiation of SLE, especially in siblings. Studies of 27 unaffected first-degree relatives in our eight families revealed two sisters with thyroid disease, persistent leukopenia and sedimentation rate elevation. They were daughters of a patient with SLE and Hashimoto's thyroiditis and sisters of a patient with SLE. The remaining 25 relatives were clinically, hematologically, biochemically, and serologically normal. While these studies suggest both genetic and environmental influences in the pathogenesis of SLE, further studies are necessary to elucidate the mechanisms.
尽管已有许多家族性系统性红斑狼疮（SLE）的病例报道，但遗传因素和环境因素的相对重要性仍不明确。为了更好地理解这些因素，对八个这样的家族进行了研究。这些家族，加上一对已故双胞胎和文献中描述的31个家族，包括8对同卵双胞胎、1对异卵双胞胎、16对兄弟姐妹以及15对亲子组合。25个家族中的53个病例提供了足够的资料用于详细分析。利用SLE的23项临床和实验室特征，将每个家族性病例与其患病亲属进行比较。同样对一组与家族性病例年龄、性别、种族和病程相匹配的非家族性SLE患者对照组进行了分析。在同卵双胞胎对以及父母与子女之间发现了疾病表现方面令人印象深刻的一致性。在兄弟姐妹与对照组之间未发现这种一致性。这些发现支持了遗传因素在同卵双胞胎以及父母与子女对中SLE表达中的影响。与非家族性组相比，家族性组临床和实验室特征频率的比较未显示出实际差异。因此，家族性SLE可能与非家族性SLE并非不同的疾病实体。发现四对父子组合降低了SLE在围产期传播的可能性。每对同卵双胞胎中SLE的发病平均间隔为2年。然而，在兄弟姐妹中，虽然发病年龄的平均差异为9岁，但发病时间（实际日期）的平均差异仅为3年。父母与子女的相应数字分别为20年和8年。这些数据表明环境因素对SLE发病有影响，尤其是在兄弟姐妹中。对我们八个家族中27名未患病的一级亲属的研究发现，有两名姐妹患有甲状腺疾病、持续性白细胞减少和血沉升高。她们是一名患有SLE和桥本甲状腺炎患者的女儿，也是一名SLE患者的姐妹。其余25名亲属在临床、血液学、生物化学和血清学方面均正常。虽然这些研究表明遗传和环境因素在SLE发病机制中均有影响，但仍需要进一步研究以阐明其机制。
