稀有变异遗传关联性研究中常用负担检验方法比较

林欣琪,梁融,张俊国,皮路程,陈思东,刘丽,郜艳晖

Comparison of common burden tests for genetic association studies of rare variants

Lin Xinqi,Liang Rong,Zhang Junguo,Pi Lucheng,Chen Sidong,Liu Li,Gao Yanhui

表2 关联稀有变异效应一致时各类方法的效能

Table 2 Results of power in various methods under the same effects with associated rare variants

$n_{1}=n_{0}$ 方法 非关联变异数=0 非关联变异数=4 非关联变异数=8 非关联变异数=16 $\rho=0$ $\rho=0.5$ $\rho=0.9$ $\rho=0$ $\rho=0.5$ $\rho=0.9$ $\rho=0$ $\rho=0.5$ $\rho=0.9$ $\rho=0$ $\rho=0.5$ $\rho=0.9$ 250 CMC 0.734 0.813 0.999 0.564 0.747 0.996 0.349 0.687 0.970 0.316 0.618 0.906 WST 0.725 0.900 1.000 0.577 0.856 0.999 0.446 0.771 0.998 0.362 0.732 0.997 SUM 0.756 0.962 1.000 0.607 0.943 1.000 0.511 0.914 1.000 0.398 0.889 1.000 SSU 0.457 0.914 1.000 0.386 0.917 1.000 0.345 0.906 1.000 0.335 0.906 1.000 SSUw 0.421 0.918 1.000 0.339 0.902 1.000 0.286 0.895 1.000 0.271 0.884 1.000 aSUM 0.592 0.903 1.000 0.427 0.875 0.998 0.340 0.829 1.000 0.242 0.814 0.999 500 CMC 0.946 0.991 1.000 0.858 0.974 1.000 0.660 0.960 1.000 0.573 0.940 1.000 WST 0.947 0.992 1.000 0.859 0.977 1.000 0.739 0.965 1.000 0.621 0.933 1.000 SUM 0.950 0.998 1.000 0.883 0.998 1.000 0.764 0.993 1.000 0.667 0.992 1.000 SSU 0.764 0.998 1.000 0.734 0.995 1.000 0.679 0.991 1.000 0.645 0.993 1.000 SSUw 0.733 0.998 1.000 0.678 0.994 1.000 0.603 0.985 1.000 0.511 0.991 1.000 aSUM 0.899 0.997 0.725 0.787 0.991 0.748 0.655 0.982 0.755 0.542 0.983 0.728 1000 CMC 1.000 0.999 1.000 0.984 1.000 1.000 0.942 1.000 1.000 0.892 0.995 1.000 WST 1.000 1.000 1.000 0.987 0.999 1.000 0.961 0.998 1.000 0.881 0.995 1.000 SUM 1.000 1.000 1.000 0.991 1.000 1.000 0.963 1.000 1.000 0.908 1.000 1.000 SSU 0.973 1.000 1.000 0.968 1.000 1.000 0.941 1.000 1.000 0.921 1.000 1.000 SSUw 0.969 1.000 1.000 0.963 1.000 1.000 0.925 1.000 1.000 0.888 1.000 1.000 aSUM 0.995 0.921 0.011 0.979 0.951 0.009 0.945 0.967 0.022 0.856 0.985 0.011