Kinnunen E, Juntunen J, Ketonen L, Koskimies S, Konttinen Y T, Salmi T, Koskenvuo M, Kaprio J
Clinical Neurosciences, Institute of Occupational Health, Helsinki, Finland.
Arch Neurol. 1988 Oct;45(10):1108-11. doi: 10.1001/archneur.1988.00520340062013.
The problems of differentiation between environmental and genetic influences on the development of multiple sclerosis are well known. Twin studies may provide valuable information on this question. However, most published twin series are selected and no through clinical twin studies based on epidemiologic series have been carried out. In this study, all available same-sex twin pairs with clinically definite multiple sclerosis derived from the Finnish Twin Cohort of 15815 pairs were studied by clinical evaluation, magnetic resonance imaging, and visual and auditory evoked responses. The mean length of follow-up of the pairs after the onset of symptoms of multiple sclerosis was 20 years. Two of the seven monozygotic pairs were concordant; one was definitely so, and in the other, the co-twin of the index case had, in addition to clinical findings, white matter changes suggestive of multiple sclerosis in magnetic resonance imaging and abnormal visual evoked responses. All six dizygotic pairs were discordant. The frequency of the HLA antigen DR2 in probands (69%) was significantly increased, but the distribution among the healthy subjects and patients showed nonsignificant differences. The results indicate a genetic influence on the susceptibility to multiple sclerosis, although still unknown genetic determinants are possible involved.
环境因素和遗传因素对多发性硬化症发病影响的区分问题是众所周知的。双胞胎研究可能会为这个问题提供有价值的信息。然而，大多数已发表的双胞胎系列研究都是经过挑选的，尚未基于流行病学系列开展全面的临床双胞胎研究。在本研究中，通过临床评估、磁共振成像以及视觉和听觉诱发电位，对来自芬兰双胞胎队列中15815对同性双胞胎中所有临床确诊为多发性硬化症的双胞胎进行了研究。多发性硬化症症状出现后，这些双胞胎对的平均随访时长为20年。七对同卵双胞胎中有两对一致；一对肯定是这样，另一对中，先证者的孪生同胞除了有临床症状外，磁共振成像显示有提示多发性硬化症的白质变化，且视觉诱发电位异常。所有六对异卵双胞胎都不一致。先证者中HLA抗原DR2的频率（69%）显著升高，但健康受试者和患者之间的分布差异不显著。结果表明遗传因素对多发性硬化症易感性有影响，尽管仍可能涉及未知的遗传决定因素。
