Allen G, Hrubec Z
Acta Genet Med Gemellol (Roma). 1979;28(1):3-13. doi: 10.1017/s0001566000009284.
Estimation of the twin concordance rate for a disease often requires two stages. First, the disease is ascertained in a population or in a population sample, and such twins as are found with the disease become probands. Second, twin pairs with only one proband are further investigated and additional concordant pairs are thus discovered. A mathematical model is presented that allows for continuous variation in completeness of ascertainment in both stages, for correlation within pairs in the primary ascertainment process, and for correlation within pairs in occurrence of the disease. The concordance rate can be estimated by the proband method if secondary ascertainment is complete; other measures of concordance are accurate only if primary ascertainment is complete. A parameter analogous to the concordance rate but related to correlation in primary ascertainment can be estimated from the same data.
估计一种疾病的双胞胎一致率通常需要两个阶段。首先,在一个人群或人群样本中确定患有该疾病的个体,所发现的患有该疾病的双胞胎成为先证者。其次,对只有一个先证者的双胞胎对进行进一步调查,从而发现更多的一致对。本文提出了一个数学模型,该模型考虑了两个阶段中确定程度的连续变化、初次确定过程中双胞胎对内部的相关性以及疾病发生时双胞胎对内部的相关性。如果二次确定是完整的,则可以通过先证者法估计一致率;只有初次确定是完整的,其他一致率测量才是准确的。可以从相同的数据中估计一个类似于一致率但与初次确定中的相关性相关的参数。