Ebers G C, Sadovnick A D, Risch N J
Department of Clinical Neurological Sciences, University of Western Ontario, London, Canada.
Nature. 1995 Sep 14;377(6545):150-1. doi: 10.1038/377150a0.
Genetic-environmental interactions probably underlie spontaneous human autoimmune disorders, a category of complex traits thought to include multiple sclerosis (MS). The geographical distribution and familial aggregation of this disease have often been ascribed to the role of infectious agents, but there is no consensus. Increased family risks range from 300-fold for monozygotic twins to 20-40-fold for biological first-degree relatives over the general population prevalence of 0.1% (ref. 6). We screened a population-based sample of 15,000 individuals with MS by using standardized, personally administered questionnaires to identify adopted index cases and/or those who had adopted relatives. The frequency of MS among first-degree non-biological relatives living with the index case was no greater than expected from Canadian population prevalence data and significantly less than for biological relatives. These findings indicate that familial aggregation of MS is genetically determined: no effect of shared environment was detectable.
基因 - 环境相互作用可能是人类自发性自身免疫性疾病的基础,这类复杂性状被认为包括多发性硬化症(MS)。这种疾病的地理分布和家族聚集现象常常被归因于感染因子的作用,但尚无定论。家族风险增加的范围从同卵双胞胎的300倍到生物学一级亲属的20 - 40倍,而普通人群的患病率为0.1%(参考文献6)。我们通过使用标准化的、个人管理的问卷对15000名多发性硬化症患者进行基于人群的抽样筛查,以识别被收养的索引病例和/或有被收养亲属的人。与索引病例共同生活的一级非生物学亲属中多发性硬化症的发病率不高于根据加拿大人群患病率数据预期的发病率,且显著低于生物学亲属。这些发现表明,多发性硬化症的家族聚集是由基因决定的:未检测到共同环境的影响。