论文标题
一个强大的MAF中性等位基因基于病例对照协会研究的测试
A powerful MAF-neutral allele-based test for case-control association studies
论文作者
论文摘要
在一项旨在定位感兴趣疾病的常染色体疾病变异的病例对照研究中，标记与疾病状态之间的关联通常通过比较病例和对照组之间的标记次要等位基因频率（MAF）来测试。对于最常见的基于等位基因的测试，统计能力高度取决于这些MAF的实际值，与具有高MAF的相关标记相比，具有低MAF的相关标记可检测到的功率较小。因此，主要基于其P值选择标记的流行策略可能优先选择具有高MAF的标记。我们提出了一项新的测试，该测试不支持具有高MAF的标记，并提高了低至中度MAF的标记，而无需牺牲高MAF的标记性能，因此在这方面优于大多数现有测试。理论上得出了提出的测试的渐近功率函数的明确公式，从而可以快速简便地计算相应的p值。将建议的测试的性能与渐近样本和有限样本量设置中的几个现有测试进行了比较。
In a case-control study aimed at locating autosomal disease variants for a disease of interest, association between markers and the disease status is often tested by comparing the marker minor allele frequencies (MAFs) between cases and controls. For most common allele-based tests the statistical power is highly dependent on the actual values of these MAFs, where associated markers with low MAFs have less power to be detected compared to associated markers with high MAFs. Therefore, the popular strategy of selecting markers for follow-up studies based primarily on their p-values is likely to preferentially select markers with high MAFs. We propose a new test which does not favor markers with high MAFs and improves the power for markers with low to moderate MAFs without sacrificing performance for markers with high MAFs and is therefore superior to most existing tests in this regard. An explicit formula for the asymptotic power function of the proposed test is derived theoretically, which allows for fast and easy computation of the corresponding p-values. The performance of the proposed test is compared with several existing tests both in the asymptotic and the finite sample size settings.
