Open Access 01-09-2018 | Proceedings
An adaptive gene-based test for methylation data
Published in: BMC Proceedings | Special Issue 9/2018
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DNA methylation plays an important role in normal human development and disease. In epigenome-wide association studies (EWAS), a univariate test for association between a phenotype and each cytosine-phosphate-guanine (CpG) site has been widely used. Given the number of CpG sites tested in EWAS, a stringent significance cutoff is required to adjust for multiple testing; in addition, multiple nearby CpG sites may be associated with the phenotype, which is ignored by a univariate test. These two factors may contribute to the power loss of a univariate test. As an alternative, we propose applying an adaptive gene-based test that is powerful in genome-wide association studies (GWAS), called aSPUw, to EWAS for simultaneous testing on multiple CpG sites within or near a gene. We show its application to the GAW20 methylation data set.