Ebers G C, Bulman D E, Sadovnick A D, Paty D W, Warren S, Hader W, Murray T J, Seland T P, Duquette P, Grey T
N Engl J Med. 1986 Dec 25;315(26):1638-42. doi: 10.1056/NEJM198612253152603.
Results from studies of twin concordance in multiple sclerosis have not conclusively differentiated between environmental and genetic factors that determine susceptibility to the disease. Published studies that have been based on case finding by public appeal have been characterized by difficulties in ascertainment. The data reported here are from a large population-based study of multiple sclerosis in twins, in which ascertainment has been relatively unbiased and the cooperation of patients nearly complete. A total of 5463 patients attending 10 multiple sclerosis clinics across Canada were surveyed. Twenty-seven monozygotic and 43 dizygotic twin pairs were identified, and the diagnosis of multiple sclerosis was verified by examination and laboratory investigation. Seven of 27 monozygotic pairs (25.9 percent) and 1 of 43 dizygotic pairs (2.3 percent) were concordant for multiple sclerosis. The concordance rate for 4582 nontwin siblings of patients at two multiple sclerosis clinics was 1.9 percent, closely paralleling the concordance rate in dizygotic twins. To the extent that the difference in concordance rates between monozygotic and dizygotic twins indicates genetic susceptibility, the results of this study show a major genetic component in susceptibility to multiple sclerosis.
对双胞胎多发性硬化症一致性的研究结果尚未最终区分决定该病易感性的环境因素和遗传因素。基于公开呼吁进行病例查找的已发表研究存在确诊困难的特点。此处报告的数据来自一项针对双胞胎多发性硬化症的大型人群研究，该研究的确诊相对无偏倚，且患者的合作近乎完全。对加拿大各地10家多发性硬化症诊所的5463名患者进行了调查。识别出27对同卵双胞胎和43对异卵双胞胎，并通过检查和实验室调查对多发性硬化症的诊断进行了核实。27对同卵双胞胎中有7对（25.9%）、43对异卵双胞胎中有1对（2.3%）患多发性硬化症一致。两家多发性硬化症诊所患者的4582名非双胞胎兄弟姐妹的一致率为1.9%，与异卵双胞胎的一致率非常接近。就同卵双胞胎和异卵双胞胎一致率的差异表明遗传易感性而言，本研究结果显示多发性硬化症易感性中存在主要的遗传成分。
