Power analysis for case-control association studies of samples with known family histories.
Power analysis for case-control association studies of samples with known family histories.
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DOI：
10.1007/s00439-010-0824-5
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发表时间：
2010-06
期刊：
影响因子：
5.3
通讯作者：
Amos CI
中科院分区：
文献类型：
--
作者：
Peng B;Li B;Han Y;Amos CI
全基因组病例对照研究已被广泛用于识别易患人类疾病的遗传变异。此类研究在检测具有中等影响的常见遗传变异方面非常有效，但随着等位基因频率和基因型相对风险的降低，其功效很快就会减弱。由于有一名或多名受影响亲属的患者比没有该疾病家族史的患者更有可能遗传某种遗传病的易感等位基因，因此对有受影响亲属的患者进行抽样几乎总是会增加病例中易感等位基因的频率，并提高病例对照关联研究的功效。本文评估了根据病例家族史选择病例和/或对照的病例对照研究的功效。我们的结果表明，这种研究设计可以极大地提高针对多种疾病类型的病例对照关联研究的功效。由于患者的每一个额外的受影响亲属都会将所需的样本量大致减少一对病例和对照，因此包含受影响亲属的病例可以显着减少所需的样本量，从而降低此类研究的成本。
Genome-wide case–control studies have been widely used to identify genetic variants that predispose to human diseases. Such studies are powerful in detecting common genetic variants with moderate effects, but quickly lose power as allele frequency and genotype relative risk decrease. Because patients with one or more affected relatives are more likely to inherit disease-predisposing alleles of a genetic disease than patients without family histories of the disease, sampling patients with affected relatives almost always increases the frequency of disease predisposing alleles in cases and improves the power of case–control association studies. This paper evaluates the power of case–control studies that select cases and/or controls according to their family histories of disease. Our results showed that this study design can dramatically increase the power of a case–control association study for a wide range of disease types. Because each additional affected relative of a patient reduces the required sample size roughly by a pair of case and control, inclusion of cases with affected relatives can dramatically decrease the required sample size and thus the cost of such studies.
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DOI：
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发表时间：
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影响因子：
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