Zhou Zhengyang, Ku Hung-Chih, Huang Zhipeng, Xing Guan, Xing Chao
McDermott Center of Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Ann Hum Genet. 2017 Sep;81(5):184-189. doi: 10.1111/ahg.12202. Epub 2017 Jun 27.
In genetic case-control association studies, a standard practice is to perform the Cochran-Armitage (CA) trend test with 1 degree-of-freedom (d.f.) under the assumption of an additive model. However, when the true genetic model is recessive or near recessive, it is outperformed by Pearson's χ test with 2 d.f. In this article, we analytically reveal the statistical basis that leads to the phenomenon. First, we show that the CA trend test examines the location shift between the case and control groups, whereas Pearson's χ test examines both the location and dispersion shifts between the two groups. Second, we show that under the additive model, the effect of location deviation outweighs that of the dispersion deviation and vice versa under a near recessive model. Therefore, Pearson's χ test is a more robust test than the CA trend test, and it outperforms the latter when the mode of inheritance evolves to the recessive end.
在基因病例对照关联研究中,一种标准做法是在加性模型假设下进行自由度为1的 Cochr an - Armitage(CA)趋势检验。然而,当真实的遗传模型是隐性或接近隐性时,自由度为2的Pearson卡方检验表现更优。在本文中,我们通过分析揭示了导致该现象的统计基础。首先,我们表明CA趋势检验考察病例组和对照组之间的位置偏移,而Pearson卡方检验考察两组之间的位置和离散度偏移。其次,我们表明在加性模型下,位置偏差的影响大于离散度偏差的影响,而在接近隐性模型下则相反。因此,Pearson卡方检验比CA趋势检验更具稳健性,当遗传模式向隐性端演变时,它的表现优于后者。