Roberts D F, Roberts M J, Poskanzer D C
J Epidemiol Community Health. 1979 Dec;33(4):229-35. doi: 10.1136/jech.33.4.229.
In a family study of all patients with multiple sclerosis (MS) in Orkney, the number of inbred among patients, although high for Britain, is not higher than the number among controls, and the inbreeding coefficients appear to eliminate recessive involvement of rare genes from the aetiology. The kinship coefficients show that the ancestries of patients and controls are closely enmeshed, and eliminate from the aetiology involvement of recently introduced genes dominant or codominant in effect. Family histories show that single locus inheritance is unlikely unless penetrance is very low. Multifactorial genetic involvement is much more likely, and it is compatible with all recent findings; on this hypothesis heritability estimates, not altogether satisfactory because of the limited number of patients in the population, suggest that the genetic contribution to the aetiology of the disease in Orkney is only moderate.
在一项针对奥克尼群岛所有多发性硬化症(MS)患者的家族研究中,患者中的近亲结婚人数虽然在英国来说偏高,但并不高于对照组,而且近亲繁殖系数似乎排除了病因中罕见基因的隐性参与。亲属系数表明,患者和对照组的血统紧密交织,排除了病因中近期引入的显性或共显性基因的参与。家族病史显示,除非外显率非常低,否则单基因座遗传不太可能。多因素遗传参与的可能性要大得多,这与所有近期研究结果相符;基于这一假设,由于人群中患者数量有限,遗传性估计并不完全令人满意,这表明基因对奥克尼群岛该疾病病因的贡献仅为中等程度。