Block S R, Winfield J B, Lockshin M D, D'Angelo W A, Christian C L
Am J Med. 1975 Oct;59(4):533-52. doi: 10.1016/0002-9343(75)90261-2.
To assess the role of genetic factors in systemic lupus erythematosus (SLE), 12 twon pairs (seven definitely monozygotic, three definitely dizygotic) of which one or both twins had SLE, were studied and compared to 17 twin pairs (12 definitely monozygotic) previously described. In the present series, four of seven (57 per cent) definitely monozygotic pairs were clinically concordant for SLE, satisfying the preliminary criteria of the American Rheumatism Association (ARA). Concordance for the presence of antinuclear factor (ANF) and hypergammaglobulinemia was 71 and tinuclear factor (ANF) and hypergammaglobulinemia was 71 and 87 per cent, respiectively. These data closely agree with those on the 12 definitely monozygotic sets previously described. All three of the dizygotic sets in the present series were discordant for clinical SLE, although one clinically well twin had marked serologic abnormalities. Comparison of these data with thos from other first degree relatives of out twins clearly suggests a strong genetic component in the pathogenesis of SLE. The relative contribution of nongenetic and environmental factors to the expression of the disease is discussed.
为评估遗传因素在系统性红斑狼疮(SLE)中的作用,对12对双胞胎(7对肯定为单卵双生,3对肯定为双卵双生)进行了研究,其中一对或双方患有SLE,并与之前描述的17对双胞胎(12对肯定为单卵双生)进行比较。在本系列中,7对肯定为单卵双生的双胞胎中有4对(57%)临床诊断为SLE,符合美国风湿病协会(ARA)的初步标准。抗核抗体(ANF)阳性和高球蛋白血症的一致性分别为71%和87%。这些数据与之前描述的12对肯定为单卵双生的数据非常吻合。本系列中所有3对双卵双生双胞胎的临床SLE诊断结果不一致,尽管其中一名临床症状良好的双胞胎有明显的血清学异常。将这些数据与其他双胞胎一级亲属的数据进行比较,清楚地表明SLE发病机制中有很强的遗传成分。本文还讨论了非遗传因素和环境因素对该病表现的相对影响。