Grasso M G, Frontali M, Bernardi S, Pantano P, Fieschi C
Department of Neurological Sciences, University of Rome, Italy.
Neuroepidemiology. 1989;8(6):300-7. doi: 10.1159/000110198.
This study is based on 166 patients with definite multiple sclerosis (MS) residing in different Italian regions and on 332 parents and 326 siblings. Seven patients had a first-degree relative with a definite diagnosis. The comparison with a population age-matched for specific frequency of MS showed an increase of the disease among relatives. The increase in MS frequency among sibs is compared with that expected under an autosomal dominant, autosomal recessive or multifactorial model. The multifactorial hypothesis appears to better fit the data. The heritability index is calculated for each combination of relative and affected patient sex and compared with estimates of other European and American countries. The recurrence risk rates for male and female relatives have been computed for the more frequent family situations. Our results support the hypothesis of a multifactorial model of inheritance and provide risk figures to be used in genetic counseling.
本研究基于居住在意大利不同地区的166例确诊多发性硬化症（MS）患者以及332名父母和326名兄弟姐妹。7例患者有确诊的一级亲属。与年龄匹配的特定MS发病率人群进行比较，结果显示亲属中该病发病率增加。将同胞中MS发病率的增加与常染色体显性、常染色体隐性或多因素模型下预期的发病率进行比较。多因素假说似乎更符合数据。计算了亲属与患病患者性别每种组合的遗传度指数，并与其他欧美国家的估计值进行比较。针对更常见的家庭情况计算了男性和女性亲属的复发风险率。我们的结果支持多因素遗传模型假说，并提供了可用于遗传咨询的风险数据。
