A Powerful and Robust Test in Genetic Association Studies

作者：Cheng Kuang Fu^*; Lee Jen Yu

来源：Human Heredity, 2014, 78(1): 38-46.

DOI：10.1159/000360987

• Association test
• Genetic model
• Power
• Robustness
• SNP

There are several well-known single SNP tests presented in the literature for detecting gene-disease association signals. Having in place an efficient and robust testing process across all genetic models would allow a more comprehensive approach to analysis. Although some studies have shown that it is possible to construct such a test when the variants are common and the genetic model satisfies certain conditions, the model conditions are too restrictive and in general difficult to verify. In this paper, we propose a powerful and robust test without assuming any model restrictions. Our test is based on the selected 2 x 2 tables derived from the usual 2 x 3 table. By signals from these tables, we show through simulations across a wide range of allele frequencies and genetic models that this approach may produce a test which is almost uniformly most powerful in the analysis of low-and high-frequency variants. Two cancer studies are used to demonstrate applications of the proposed test.

• 出版日期2014