1. Landscape of Germline Genetic Variants in AGT, MGMT, and TP53 in Mexican Adult Patients with Astrocytoma.
- Author
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Carlos-Escalante JA, Gómez-Flores-Ramos L, Bian X, Perdomo-Pantoja A, de Andrade KC, Mejía-Pérez SI, Cacho-Díaz B, González-Barrios R, Reynoso-Noverón N, Soto-Reyes E, Sánchez-Correa TE, Guerra-Calderas L, Yan C, Chen Q, Castro-Hernández C, Vidal-Millán S, Taja-Chayeb L, Gutiérrez O, Álvarez-Gómez RM, Gómez-Amador JL, Ostrosky-Wegman P, Mohar-Betancourt A, Herrera-Montalvo LA, Corona T, Meerzaman D, and Wegman-Ostrosky T
- Subjects
- Adult, Astrocytoma epidemiology, Astrocytoma pathology, Brain Neoplasms epidemiology, Brain Neoplasms pathology, Case-Control Studies, Cohort Studies, Female, Gene Expression Regulation, Neoplastic genetics, Humans, Male, Mexico epidemiology, Middle Aged, Angiotensinogen genetics, Astrocytoma genetics, Brain Neoplasms genetics, DNA Modification Methylases genetics, DNA Repair Enzymes genetics, Genetic Variation genetics, Tumor Suppressor Protein p53 genetics, Tumor Suppressor Proteins genetics
- Abstract
Astrocytoma is the most common type of primary brain tumor. The risk factors for astrocytoma are poorly understood; however, germline genetic variants account for 25% of the risk of developing gliomas. In this study, we assessed the risk of astrocytoma associated with variants in AGT, known by its role in angiogenesis, TP53, a well-known tumor suppressor and the DNA repair gene MGMT in a Mexican population. A case-control study was performed in 49 adult Mexican patients with grade II-IV astrocytoma. Sequencing of exons and untranslated regions of AGT, MGMT, and TP53 from was carried in an Ion Torrent platform. Individuals with Mexican Ancestry from the 1000 Genomes Project were used as controls. Variants found in our cohort were then assessed in a The Cancer Genome Atlas astrocytoma pan-ethnic validation cohort. Variants rs1926723 located in AGT (OR 2.74, 1.40-5.36 95% CI), rs7896488 in MGMT (OR 3.43, 1.17-10.10 95% CI), and rs4968187 in TP53 (OR 2.48, 1.26-4.88 95% CI) were significantly associated with the risk of astrocytoma after multiple-testing correction. This is the first study where the AGT rs1926723 variant, TP53 rs4968187, and MGMT rs7896488 were found to be associated with the risk of developing an astrocytoma.
- Published
- 2021
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