A note on allelic tests in case-control association studies
A note on allelic tests in case-control association studies
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DOI：
10.1111/j.1469-1809.2008.00438.x
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发表时间：
2008-05-01
影响因子：
1.9
通讯作者：
Prum, B.
中科院分区：
文献类型：
--
作者：
Guedj, M.;Nuel, G.;Prum, B.
本文重新考虑了Sasieni在病例对照遗传关联研究中基于等位基因的检验的有效性方面的相关贡献。特别是，作者清楚地证明了当组合病例对照总体不处于Hardy-Weinberg均衡时，应用于等位基因列联表的经典卡方检验是有偏差的。作为另一种选择，他建议使用科克伦-阿米蒂奇检验来检验趋势，他的论点是基于这两个检验在哈代-温伯格均衡下渐近等价的事实。然而，他只证明了当观察到的基因比例严格处于平衡时，统计学的等价性--这并不正式地暗示建议的、通常被接受的渐近行为。在这篇简短的交流中，我们通过提供证据来补充这一贡献，证明在上述条件下，等位基因统计和趋势统计是渐近等价的。此外，由于“偏向”等位基因测试在文献中仍被广泛使用，我们根据Sasieni的结论，简要讨论了随后开发的不同的替代方案。
This paper reconsiders the relevant contribution of Sasieni in the validity of allele-based tests in case-control genetic association studies. In particular, the author clearly demonstrates that the classical chi-square test applied to allelic contingency tables is biased when the combined case-control population is not in Hardy-Weinberg equilibrium. As an alternative, he suggests using the Cochran-Armitage test for trends by basing his argument on the fact that these two tests are asymptotically equivalent at the Hardy-Weinberg equilibrium. However he only demonstrates the equality of the statistics when the observed genotypic proportions are strictly in equilibrium - which does not formally imply the suggested, and often accepted, asymptotic behavior.In this short communication, we complement this contribution by providing the proof that allelic and trend statistics are asymptotically equivalent under the conditions mentioned above. In addition, since the 'biased' allelic test is still widely used in the literature, we briefly discuss the different alternatives that have been subsequently developed, based on Sasieni's conclusions.