Sommer N, Zipp F, Rösener M, Dichgans J, Martin R
Neurologische Universitätsklinik, Eberhard-Karls-Universität, Tübingen.
Nervenarzt. 1996 Jun;67(6):457-64.
Epidemiological studies have provided evidence for a genetic contribution to the susceptibility of multiple sclerosis (MS). One in six patients has at least one affected family member. The concordance rate is approximately 25% in monozygotic twins, and 3% in siblings, however the prevalence in adopted siblings is similar to the general population (0.1%) MS is thought to be a T cell-mediated autoimmune disease and therefore genes controlling the immune response have been studied intensively as potential susceptibility factors. The best documented association was found for genes of the human-leukocyte antigen complex. Other possible susceptibility genes may reside in the regions of the T cell receptors and the tumour necrosis factors. So far it is clear, that MS is a multifactorial disease in which several genes must be involved. Population genetics and molecular biology will help to characterise further these susceptibility factors.
流行病学研究已为多发性硬化症(MS)易感性的遗传因素提供了证据。每六名患者中就有一人至少有一名患病的家庭成员。同卵双胞胎的一致率约为25%,兄弟姐妹为3%,然而,领养兄弟姐妹中的患病率与普通人群相似(0.1%)。MS被认为是一种T细胞介导的自身免疫性疾病,因此,作为潜在的易感因素,控制免疫反应的基因已被深入研究。记录最充分的关联是人类白细胞抗原复合体的基因。其他可能的易感基因可能存在于T细胞受体和肿瘤坏死因子区域。到目前为止很清楚的是,MS是一种多因素疾病,其中必然涉及多个基因。群体遗传学和分子生物学将有助于进一步明确这些易感因素。