Diffuse gliomas are the most common malignant primary brain tumors and remain incurable. A better knowledge of the tumor etiology is required. Specific single nucleotides polymorphisms (SNPs) rs4977756 (CDKN2A/B), rs6010620 (RTEL1), rs498872 (PHLDB1), rs2736100 (TERT), and rs4295627 (CCDC26) have been associated with glioma susceptibility and are potential risk biomarkers. This study aimed to analyze five SNPs associated with glioma susceptibility, in the Portuguese population. SNPs were genotyped using the Sequenom MassARRAY platform in 127 gliomas and 180 controls. Unconditional logistic regression models were used to calculate odds ratio (OR) and 95% confidence intervals. The false-positive report probability was also assessed. The associations between polymorphisms and survival were evaluated using the log-rank test. It was found that the AG and GG genotypes of the rs4977756 (CDKN2A/B) were associated with an increased risk of gliomas (OR 1.85 and OR 2.38) and glioblastomas (OR 2.77 and OR 3.94). The GA genotype of the rs6010620 (RTEL1) was associated with a decreased risk of glioblastomas (OR 0.45). We also observed that the GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39). No significant risk associations were found for the rs2736100 (TERT) and rs4295627 (CCDC26). In addition, the genotype AA of the rs498872 (PHLDB1) was associated with poor overall survival of gliomas patients (AA vs. GA, p = 0.037). The rs6010620 (RTEL1), rs4977756 (CDKN2A/B), and rs498872 (PHLDB1) are associated with glioma risk in the Portuguese population and these data may contribute to understanding gliomas etiology.

译文

:弥漫性神经胶质瘤是最常见的恶性原发性脑肿瘤,仍然无法治愈。需要对肿瘤病因有更好的了解。特定的单核苷酸多态性(SNP)rs4977756(CDKN2A / B),rs6010620(RTEL1),rs498872(PHLDB1),rs2736100(TERT)和rs4295627(CCDC26)已与神经胶质瘤易感性相关联,并且是潜在的危险生物标志物。这项研究旨在分析葡萄牙人群中与神经胶质瘤易感性相关的五个SNP。使用Sequenom MassARRAY平台在127个神经胶质瘤和180个对照中对SNP进行基因分型。使用无条件逻辑回归模型来计算比值比(OR)和95%置信区间。还评估了假阳性报告的可能性。使用对数秩检验评估多态性与生存之间的关联。发现rs4977756(CDKN2A / B)的AG和GG基因型与胶质瘤(OR 1.85和OR 2.38)和胶质母细胞瘤(OR 2.77和OR 3.94)的风险增加相关。 rs6010620(RTEL1)的GA基因型与胶质母细胞瘤的风险降低相关(OR 0.45)。我们还观察到,rs498872(PHLDB1)的GA基因型与胶质瘤(OR 2.92)和胶质母细胞瘤(OR 2.39)的风险增加相关。没有发现rs2736100(TERT)和rs4295627(CCDC26)有明显的风险关联。此外,rs498872(PHLDB1)的基因型AA与胶质瘤患者的整体生存期差有关(AA vs. GA,p = 0.037)。 rs6010620(RTEL1),rs4977756(CDKN2A / B)和rs498872(PHLDB1)与葡萄牙人群的神经胶质瘤风险相关,这些数据可能有助于了解神经胶质瘤的病因。

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