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CASC15 基因多态性与中国儿童脑胶质瘤易感性的相关性研究。

CASC15 Gene Polymorphisms and Glioma Susceptibility in Chinese Children.

机构信息

Faculty of Medicine, Macau University of Science and Technology, Macau, 999078, China.

Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.

出版信息

Curr Med Sci. 2022 Aug;42(4):797-802. doi: 10.1007/s11596-022-2613-5. Epub 2022 Jul 11.

Abstract

OBJECTIVE

Gliomas are the most common tumors in the central nervous system. The cancer susceptibility candidate 15 (CASC15) gene has been reported to be a susceptibility gene for several types of cancer. No studies have been carried out on the predisposing effect of CASC15 gene single nucleotide polymorphisms (SNPs) on glioma risk.

METHODS

In order to determine whether CASC15 gene SNPs are involved in glioma susceptibility, the first association study in a relatively large sample, which consisted of 171 patients and 228 healthy controls recruited from China, was performed. The contribution of SNPs (rs6939340 A>G, rs4712653 T>C and rs9295536 C>A) to the risk of glioma was evaluated by multinomial logistic regression, based on the calculation of the odds ratio (OR) and 95% confidence interval (CI).

RESULTS

In the single locus and combined analysis, it was revealed that the genetic risk score had no significant associations between CASC15 gene SNPs and glioma risk. However, in the stratified analysis, a significant decrease in risk of glioma was observed in subjects of <60 months old with the rs4712653 TT genotype, when compared to those with the CC/CT genotype (OR=0.12, 95% CI=0.02-0.91, P=0.041).

CONCLUSION

The present study provides referential evidence on the association between the genetic predisposition of the CASC15 gene and glioma risk in Chinese children. However, more well-designed case-control studies and functional experiments are needed to further explore the role of CASC15 gene SNPs.

摘要

目的

神经胶质瘤是中枢神经系统最常见的肿瘤。癌症易感性候选基因 15(CASC15)已被报道为多种癌症的易感基因。尚未对 CASC15 基因单核苷酸多态性(SNP)对神经胶质瘤风险的易感性进行研究。

方法

为了确定 CASC15 基因 SNP 是否参与神经胶质瘤易感性,在中国进行了一项相对较大样本的首次关联研究,该研究纳入了 171 名患者和 228 名健康对照者。通过多变量逻辑回归,基于计算比值比(OR)和 95%置信区间(CI),评估 SNP(rs6939340 A>G、rs4712653 T>C 和 rs9295536 C>A)对神经胶质瘤风险的贡献。

结果

在单基因座和联合分析中,未发现 CASC15 基因 SNP 与神经胶质瘤风险之间存在遗传风险评分的显著关联。然而,在分层分析中,与 CC/CT 基因型相比,rs4712653 TT 基因型的<60 个月的患者神经胶质瘤的发病风险显著降低(OR=0.12,95%CI=0.02-0.91,P=0.041)。

结论

本研究为 CASC15 基因遗传易感性与中国儿童神经胶质瘤风险之间的关联提供了参考证据。然而,需要更多设计良好的病例对照研究和功能实验来进一步探讨 CASC15 基因 SNP 的作用。

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