The role of genetic factors in ependymoma susceptibility

An adequately powered study setting is important for the proposed GWAS to identify novel validated germline variants associated with ependymoma. As in such studies, extremely conservative p-value estimates must be used to correct for multiple comparisons. A large sample size is essential to be able to detect variants at a genome-wide significance level of p ≤ 5×10-8 . Moreover, a separate set of cases and controls to validate the identified variants is necessary. Given the rarity of pediatric brain tumors, especially when the study is focused on a specific histological subtype, obtaining a large sample size is not easy. Our proposed study is a large collaborative study including more than 1500 ependymoma samples. However, to obtain an adequate power for performing the GWAS, we are applying for the available specimen and data for ependymoma at CBTTC. All the data generated from subjects of the CBTTC will be pooled with other available data at Baylor College of Medicine, as well as, the data available from other research centers involved in this study, to achieve an adequately powered GWAS.