Molecular Medicine Unit, Department of Medicine, Institute for Biomedical Research of Salamanca (IBSAL), University of Salamanca, University Hospital of Salamanca, Salamanca, Spain.
Neurosurgery Service, Son Espases University Hospital, Mallorca, Spain.
BMC Cancer. 2022 Feb 5;22(1):146. doi: 10.1186/s12885-022-09214-y.
Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors.
Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility.
Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor.
This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.
胶质母细胞瘤是成人中最具侵袭性和最常见的恶性原发性脑肿瘤。在这种肿瘤中已经鉴定出许多遗传、表观遗传和基因组突变，但尚未确定胶质母细胞瘤发病机制的驱动原因。自噬已被证明在不同的疾病中失调，如癌症，在癌症的早期发展阶段，自噬作为一种肿瘤抑制机制发挥作用，而在已建立的肿瘤中则促进癌细胞存活。
在这里，我们旨在评估自噬基因（ATG2B rs3759601、ATG16L1 rs2241880、ATG10 rs1864183、ATG5 rs2245214、NOD2 rs2066844 和 rs2066845）中的几个候选多态性与胶质母细胞瘤易感性之间的潜在关联。
我们的结果表明，ATG2B rs3759601、ATG10 rs1864183 和 NOD2 rs2066844 变体与更高的胶质母细胞瘤风险之间存在显著相关性。此外，还研究了不同临床特征与候选基因多态性之间的关系，发现 ATG10 rs1864183 可能是该肿瘤有前途的预后因素。
这是首次评估自噬基因中不同变体在调节胶质母细胞瘤风险中的作用的报告，我们的结果强调了自噬在胶质母细胞瘤发展中的重要性。
