Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Genet Epidemiol. 2020 Apr;44(3):290-299. doi: 10.1002/gepi.22284. Epub 2020 Feb 11.
Mendelian randomization (MR) study has become a powerful approach to assess the potential causal effect of a risk exposure on an outcome. Most current MR studies are conducted under the two-sample setting by combining summary data from two separate genome-wide association studies (GWAS), with one providing measures on associations between genetic markers and the risk exposure, and the other on associations between genetic markers and the outcome. We develop a power calculation procedure for the general two-sample MR study, allowing for the use of multiple genetic markers, and shared participants between the two GWAS. This procedure requires a few easy-to-interpret parameters and is validated through extensive simulation studies.
孟德尔随机化（MR）研究已成为评估风险暴露对结果潜在因果效应的有力方法。目前大多数 MR 研究都是在两样本设置下进行的，通过合并两个独立的全基因组关联研究（GWAS）的汇总数据，其中一个提供了遗传标记与风险暴露之间的关联度量，另一个提供了遗传标记与结果之间的关联度量。我们为一般的两样本 MR 研究开发了一种功效计算程序，允许使用多个遗传标记，并允许在两个 GWAS 之间共享参与者。该程序需要几个易于理解的参数，并通过广泛的模拟研究进行验证。
