How to translate text using browser tools
11 April 2022 Examination of Genetic Susceptibility in Radiation-Associated Meningioma
A. Pemov, J. Kim, K. Jones, A. Vogt, S. Sadetzki, D. R. Stewart
Author Affiliations +
Abstract

Previous epidemiological studies have demonstrated elevated susceptibility to ionizing radiation in some families, thus suggesting the presence of genetic components that conferred increased rate of radiation-associated meningioma (RAM). In this study, we exome-sequenced and investigated the segregation pattern of rare deleterious variants in 11 RAM pedigrees. In addition, we performed a rare-variant association analysis in 92 unrelated familial cases of RAM that were ancestry-matched with 88 meningioma-free controls. In the pedigree analysis, we found that each family carried mostly a unique set of rare deleterious variants. A follow-up pathway analysis of the union of the genes that segregated within each of the 11 pedigrees identified a single statistically significant (q value = 7.90E-04) “ECM receptor interaction” set. In the case-control association analysis, we observed no statistically significant variants or genes after multiple testing correction; however, examination of ontological categories of the genes that associated with RAM at nominal P values <0.01 identified biologically relevant pathways such as DNA repair, cell cycle and apoptosis. These results suggest that it is unlikely that a small number of highly penetrant genes are involved in the pathogenesis of RAM. Substantially larger studies are needed to identify genetic risk variants and genes in RAM.

©2022 by Radiation Research Society. All rights of reproduction in any form reserved.
A. Pemov, J. Kim, K. Jones, A. Vogt, S. Sadetzki, and D. R. Stewart "Examination of Genetic Susceptibility in Radiation-Associated Meningioma," Radiation Research 198(1), 81-88, (11 April 2022). https://doi.org/10.1667/RADE-21-00035.1
Received: 23 February 2022; Accepted: 28 March 2022; Published: 11 April 2022
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top