A comparative study of sibship tests of linkage and/or association

A comparative study of sibship tests of linkage and/or association
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DOI:
10.1086/302104
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发表时间:
1998-11-01
影响因子:
9.8
通讯作者:
Weir, BS
Weir, BS
中科院分区:
生物学1区
文献类型:
--
作者:
Monks, SA;Kaplan, NL;Weir, BS

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基于人群的关联检验使用了病例对照研究或基于三人组(受影响的儿童和父母)的研究的数据。病例对照研究更容易出现因控制不当而导致的假阳性结果,例如,如果存在人群混合或分层,就会出现这种情况。基于家庭的检测的优点是病例和对照非常匹配,但父母数据可能并不总是可用,特别是对于迟发性疾病。最近的三项基于家庭的关联和联系测试利用未受影响的兄弟姐妹作为无类型父母的代理人。在本文中,我们建议对其中一项测试进行扩展。我们描述并比较了复杂疾病背景下的双等位基因和多等位基因标记以及不同大小的同胞的四种测试。我们还研究了样本中包含一些父母数据的后果。
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. Im 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.