Familial factors influence disability in MS multiplex families
Familial factors influence disability in MS multiplex families
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DOI：
10.1212/wnl.52.8.1632
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发表时间：
1999-05-12
期刊：
影响因子：
9.9
通讯作者：
Fontaine, B
中科院分区：
文献类型：
--
作者：
Brassat, D;Azais-Vuillemin, C;Fontaine, B
背景：遗传和环境因素在多发性硬化症的病理生理学中起着重要作用，并可能影响该病的临床表现。目的：探讨家族因素对多发性硬化症临床表现的影响。方法：法国多发性硬化症遗传学研究组鉴定了87对同胞。对于每个患者，记录了性别、发病年龄、病程和发病后的病程。残疾由进展指数(PI)确定，定义为扩展残疾状态量表(EDSS)得分与病程超过5年时的比率。对一组患者(临床特征、人类白细胞抗原与临床特征的关系)或一组同胞(临床特征的一致性)进行统计分析。结果：平均发病年龄29.6岁，男女之比为59：28，平均PI为0.27。SIBS与MS的发病年龄和病程无关。相反，我们观察到MS SIBS的PI有微弱但显著的相关性(r=0.234，p=0.03)。结论：本研究揭示了MS同胞对疾病严重程度的一致性，支持残疾程度可能部分受家庭因素(环境或遗传)影响的假说。
Background: Both genetic and environmental factors play a role in the pathophysiology of MS and may influence the clinical expression of the disease. Objective: To determine the contribution of familial factors to the clinical expression of MS. Methods: The French Multiple Sclerosis Genetics Group identified 87 sibling pairs. For each patient, sex, age at onset, duration of the disease, and disease course from onset were recorded. Disability was determined by the progression index (PI), defined as the ratio of the Expanded Disability Status Scale (EDSS) score disease duration when the latter exceeded 5 years. Statistical analyses were performed either with a group of patients (clinical features, relation between human leukocyte antigen and clinical features) or with a group of sibpairs (concordance for clinical features). Results: The mean age at onset was 29.6 years, the ratio of women to men was 59:28, and the mean PI was 0.27. There was no correlation for disease course and age at onset between sibs with MS. In contrast, we observed a weak but significant correlation of the PI in MS sibpairs (r = 0.234, p = 0.03). Conclusion: This study revealed a concordance in MS sibling pairs for the disease severity, supporting the hypothesis that the degree of disability might be partly influenced by familial factors (environmental or genetic).