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.

星形细胞瘤是最常见的原发性脑肿瘤类型。人们对星形细胞瘤的危险因素知之甚少；然而，25% 的神经胶质瘤风险由种系遗传变异引起。在这项研究中，我们评估了墨西哥人群中与AGT变异相关的星形细胞瘤风险，AGT 因其在血管生成中的作用而闻名， TP53是一种众所周知的肿瘤抑制因子，还有 DNA 修复基因MGMT 。对 49 名患有 II-IV 级星形细胞瘤的墨西哥成年患者进行了一项病例对照研究。 AGT 、 MGMT和TP53的外显子和非翻译区的测序在 Ion Torrent 平台上进行。来自千人基因组计划的具有墨西哥血统的个体被用作对照。然后在癌症基因组图谱星形细胞瘤泛种族验证队列中对我们队列中发现的变异进行评估。位于AGT中的变体 rs1926723 (OR 2.74, 1.40–5.36 95% CI)、 MGMT中的 rs7896488 (OR 3.43, 1.17–10.10 95% CI) 和TP53中的 rs4968187 (OR 2.48, 1.26–4.88 95% CI) 显着相关经多次检测校正后有星形细胞瘤的风险。这是第一项发现AGT rs1926723 变异、 TP53 rs4968187 和MGMT rs7896488 与发生星形细胞瘤风险相关的研究。