Monks S A, Kaplan N L, Weir B S
Biostatistics Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Am J Hum Genet. 1998 Nov;63(5):1507-16. doi: 10.1086/302104.
Population-based tests of association have used data from either case-control studies or studies based on trios (affected child and parents). Case-control studies are more prone to false-positive results caused by inappropriate controls, which can occur if, for example, there is population admixture or stratification. An advantage of family-based tests is that cases and controls are well matched, but parental data may not always be available, especially for late-onset diseases. Three recent family-based tests of association and linkage utilize unaffected siblings as surrogates for untyped parents. In this paper, we propose an extension of one of these tests. We describe and compare the four tests in the context of a complex disease for both biallelic and multiallelic markers, as well as for sibships of different sizes. We also examine the consequences of having some parental data in the sample.
基于人群的关联性检验使用了病例对照研究或基于三人组（患病子女及其父母）的研究数据。病例对照研究更容易因不适当的对照而产生假阳性结果，例如，如果存在人群混合或分层情况，就可能出现这种情况。基于家系的检验的一个优点是病例和对照匹配良好，但父母的数据可能并不总是可得，尤其是对于迟发性疾病。最近有三种基于家系的关联性和连锁性检验利用未患病的兄弟姐妹作为未分型父母的替代者。在本文中，我们提出了其中一种检验的扩展方法。我们在复杂疾病的背景下，针对双等位基因和多等位基因标记以及不同大小的同胞对，描述并比较了这四种检验方法。我们还研究了样本中存在一些父母数据的后果。
