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泛癌中基因多态性与表达的临床意义:一项荟萃分析和生物信息学分析

Clinical significance of gene polymorphisms and expression in pan-cancer: a meta-analysis and bioinformatic analysis.

作者信息

Zhou Surui, Xue Jinyin, Yang Qijun, Zang Wenjing, Chen Yi, Zhao Yining, Gao Xueren

机构信息

School of Pharmacy, Yancheng Teachers' University, Yancheng, China.

出版信息

Nucleosides Nucleotides Nucleic Acids. 2025;44(8):643-652. doi: 10.1080/15257770.2024.2393316. Epub 2024 Aug 18.

Abstract

Several studies have reported the relationship between gene polymorphisms (rs3811463 T > C and rs34787247 G > A) and cancer susceptibility, but the results are inconsistent and need further clarification. The current study aimed to evaluate their relationship and also to explore the relationship between gene expression and immune infiltration, tumor stage, survival prognosis, and drug sensitivity in pan-cancer. The meta-analysis and data mining were completed by STATA software and the GSCA platform, respectively. The meta-analysis showed that the rs3811463 polymorphism was not associated with cancer susceptibility, while the rs34787247 polymorphism was associated with cancer susceptibility in the Chinese population [AA vs. GG: Odd Ratio (OR)=1.98, 95% Confidence Interval (CI)=1.35-2.89, P<0.001; GA vs. GG: OR = 1.17, 95%CI= 1.01-1.36, P=0.04; (AA + GA) vs. GG: OR = 1.24, 95%CI = 1.07-1.43, P=0.004; AA vs. (GA + GG): OR = 1.90, 95%CI = 1.30- 2.78, P=0.001; A vs. G: OR = 1.27, 95%CI = 1.12-1.44, P<0.001]. gene expression was associated not only with immune infiltration, pathological stage, and survival prognosis of certain cancers, but also with sensitivity to multiple anticancer drugs, such as cisplatin, pazopanib, olaparib, and selumetinib. In conclusion, the current study suggested that the rs34787247 G > A polymorphism might be used as a cancer risk marker in the Chinese population, and LIN28A might serve as a prognostic marker and therapeutic target for certain cancers.

摘要

多项研究报告了基因多态性(rs3811463 T>C和rs34787247 G>A)与癌症易感性之间的关系,但结果不一致,需要进一步阐明。本研究旨在评估它们之间的关系,并探讨全癌中基因表达与免疫浸润、肿瘤分期、生存预后和药物敏感性之间的关系。荟萃分析和数据挖掘分别通过STATA软件和GSCA平台完成。荟萃分析表明,rs3811463多态性与癌症易感性无关,而rs34787247多态性与中国人群的癌症易感性有关[AA与GG:优势比(OR)=1.98,95%置信区间(CI)=1.35-2.89,P<0.001;GA与GG:OR = 1.17,95%CI= 1.01-1.36,P=0.04;(AA + GA)与GG:OR = 1.24,95%CI = 1.07-1.43,P=0.004;AA与(GA + GG):OR = 1.90,95%CI = 1.30- 2.78,P=0.001;A与G:OR = 1.27,95%CI = 1.12-1.44,P<0.001]。基因表达不仅与某些癌症的免疫浸润、病理分期和生存预后有关,还与对多种抗癌药物的敏感性有关,如顺铂、帕唑帕尼、奥拉帕尼和塞鲁美替尼。总之,本研究表明,rs34787247 G>A多态性可能作为中国人群的癌症风险标志物,而LIN28A可能作为某些癌症的预后标志物和治疗靶点。

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