肿瘤相关内含子增强子区SNPs调控机制的研究进展

doi:10.16352/j.issn.1001-6325.2026.07.1009

基础医学与临床 ›› 2026, Vol. 46 ›› Issue (7): 1009-1013.doi: 10.16352/j.issn.1001-6325.2026.07.1009

肿瘤相关内含子增强子区SNPs调控机制的研究进展

李贤群^1,2, 池雨欣², 苗家鸣², 齐晓璐², 魏童², 杨卫红^1*

郑州大学 1.基础医学院病理学与法医学系;2.第一临床医学院,河南郑州 450001

收稿日期:2025-05-22 修回日期:2025-09-24 发布日期:2026-06-23
通讯作者: ^*yangweihong@zzu.edu.cn
基金资助:
第二批河南省专创融合特色示范课程(豫教2024ZCRH05);郑州大学大学生创新创业计划训练项目(2024cxcy510);河南省重点研发与推广专项(科研攻关)(222102310186)

Research progress in the regulatory mechanism of tumor-associated intronic enhancer region SNPs

LI Xianqun^1,2, CHI Yuxin², MIAO Jiaming², QI Xiaolu², WEI Tong², YANG Weihong^1*

1. Department of Pathology and Forensic Medicine, College of Basic Medical Sciences; 2. First Clinical Medical College, Zhengzhou University, Zhengzhou 450001, China

Received:2025-05-22 Revised:2025-09-24 Published:2026-06-23
Contact: ^*yangweihong@zzu.edu.cn

摘要/Abstract

摘要： 单核苷酸多态性(SNPs)是最常见的基因多态性,对于乳腺癌、结直肠癌、肺癌等肿瘤,内含子增强子区SNPs(IER-SNPs)可通过转录因子结合、影响启动子-增强子相互作用、介导增强子-启动子转换效应等途径影响其发生发展过程。通过梳理IER-SNPs对肿瘤的调控机制,可以为筛选与肿瘤形成与发展相关的IER-SNPs和解析这些IER-SNPs的调控机制提供参考。

关键词: 肿瘤, 内含子, 单核苷酸多态性(SNP), 增强子, 调控

Abstract: single nucleotide polymorphisms(SNPs) are the most common genetic polymorphisms. Intronic enhancer region SNPs(IER-SNPs) can influence the progress of carcinomaigenesis and progression of breast cancer, colorectal cancer, lung cancer and other carcinomas by multiple approaches including influencing the transcription factor binding,promoter-enhancer interactions and mediating the enhancer-promoter switching effect and so on. By sorting out the regulatory mechanisms of IER-SNPs on tumors, it can provide references for screening tumor-associated IER-SNPs formation and development and or research on regulatory mechanisms of these IER-SNPs.

Key words: carcinoma, intron, single nucleotide polymorphism(SNP), enhancer, regulation

中图分类号:

R394.3
R73

李贤群, 池雨欣, 苗家鸣, 齐晓璐, 魏童, 杨卫红. 肿瘤相关内含子增强子区SNPs调控机制的研究进展[J]. 基础医学与临床, 2026, 46(7): 1009-1013.

LI Xianqun, CHI Yuxin, MIAO Jiaming, QI Xiaolu, WEI Tong, YANG Weihong. Research progress in the regulatory mechanism of tumor-associated intronic enhancer region SNPs[J]. Basic & Clinical Medicine, 2026, 46(7): 1009-1013.

参考文献

[1] Shi Q, Yao XY, Wang HY, et al. Breast cancer-associated SNP rs72755295 is a cis-regulatory variation for human EXO1[J]. Genet Mol Biol, 2022, 45: e20210420. doi: 10.1590/1678-4685-GMB-2021-0420.
[2] Shi Q, Zhang XX, Shi XQ, et al. Identification of rs2736099 as a novel cis-regulatory variation for TERT and implications for tumorigenesis and cell proliferation[J]. J Cancer Res Clin, 2023, 149: 4515-4522. doi:10.1007/s00432-022-04372-9
[3] Han D, Owiredu JN, Healy BM, et al. Susceptibility-associated geenetic variation in NEDD9 contributes to prostate cancer initiation and progression[J].Cancer Res, 2021, 81: 3766-3776. doi:10.1158/0008-5472.CAN-20-3042.
[4] Yu CY, Han JX, Zhang J, et al. A 16q22.1 variant confers susceptibility to colorectal cancer as a distal regulator of ZFP90[J]. Oncogene, 2020, 39: 1347-1360. doi:10.1038/s41388-019-1055-4.
[5] Ünal P, Lu Y, Bueno-de-Mesquita B, et al. Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk[J]. Hum Genomics, 2024, 18: 12. doi: 10.1186/s40246-024-00576-x.
[6] Protze J, Naas S, Krueger R, et al. The renal cancer risk allele at 14q24.2 activates a novel hypoxia-inducible transcription factor-binding enhancer of DPF3 expression[J]. J Biol Chem, 2022, 298: 101699. doi: 10.1016/j.jbc.2022.101699.
[7] Zhang ZH, Liu XP, Li L, et al. SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation[J]. Embo J, 2021, 40: e107974. doi: 10.15252/embj.2021107974.
[8] Lu Z, Fan L, Zhang F, et al. HSPA12A was identified as a key driver in colorectal cancer GWAS loci 10q26.12 and modulated by an enhancer-promoter interaction[J]. Arch Toxicol, 2023, 97: 2015-2028. doi: 10.1007/s00204-023-03494-4.
[9] Mei S, Ke J, Tian J, et al. A functional variant in the boundary of a topological association domain is associated with pancreatic cancer risk[J]. Mol Carcinogen, 2019, 58: 1855-1862. doi: 10.1002/mc.23077.
[10] Hua JT, Ahmed M, Guo H, et al. Risk SNP-mediated promoter-enhancer switching drives prostate cancer through lncRNA PCAT19[J]. Cell, 2018, 174: 564-575. doi: 10.1016/j.cell.2018.06.014.
[11] Baili E, Gazoul M, Lazaris AC, et al. Associations of long non-coding RNAs HOTAIR, LINC00951, POLR2E and HULC polymorphisms with the risk of esophageal and esophagogastric junction cancer in a western population: a case-control study[J]. Mol Biol Rep. 2024, 51:249. doi: 10.1007/s11033-024-09206-0.
[12] Karajovic J, Kovacevic B, Uzelac B, et al. Association of HOTAIR, MIR155HG, TERC, miR-155,-196a2, and-146a genes polymorphisms with papillary thyroid cancer susceptibility and prognosis[J]. Cancers, 2024, 16:485. doi: 10.3390/cancers16030485.
[13] Sherif ZA, Oguwob OO, Ressom HW. Mechanisms and technologies in cancer epigenetics[J]. Front Oncol. 2025, 14:1513654. doi: 10.3389/fonc.2024.1513654.
[14] Sudunagunta VS, Viny AD. Untangling the loops of STAG2 mutations in myelodysplastic syndrome[J]. Leuk Lymphoma. 2025, 66:6-15. doi: 10.1080/10428194.2024.2400210.
[15] Sole-Ferran M, Losada A. Cohesin in 3D: development, differentiation, and disease[J]. Genes Dev. 2025, 39:679-696. doi: 10.1101/gad.352671.125.
[16] Sun J, Chen Y, Xu Z, et al. Notch signaling in the tumor immune microenvironment of colorectal cancer: mechanisms and therapeutic opportunities[J]. J Transl Med. 2025, 23:315. doi: 10.1186/s12967-025-06282-z.
[17] Sayers EW, Beck J, Bolton EE, et al. Database resources of the National Center for Biotechnology Information[J]. Nucleic Acids Res. 2024, 52:D33-D43. doi: 10.1093/nar/gkab1112.
[18] Dong S, Zhao N, Spragins E, et al. Annotating and prioritizing human non-coding variants with RegulomeDB v.2[J]. Nat Genet, 2023, 55: 724-726. doi: 10.1038/s41588-023-01365-3.
[19] Zhu QN, Wang RX. Study on the association between CYP2D6*10 polymorphism and adverse reactions to Tamoxifen[J]. Chin J oncol, 2025, 47:404-410. doi: 10.3760/cma.j.cn112152-20240613-00251.
[20] Cerezo M, Sollis E, Ji Y, et al. The NHGRI-EBI GWAS catalog: standards for reusability, sustainability and diversity[J]. Nucleic Acids Res[J]. 2025, 53:D998-D1005. doi: 10.1093/nar/gkae1070.
[21] Raney BJ, Barber GP, Benet-Pages A, et al. The UCSC Genome Browser database: 2024 update[J]. Nucleic Acids Res, 2024, 52: 1082-1088. doi: 10.1093/nar/gkad987.
[22] Prabhu NB, Vinay CM, Satyamoorth K, et al. Pharmacogenomics deliberations of 2-deoxy-d-glucose in the treatment of COVID-19 disease: an in silico approach[J]. 3 Biotech. 2022, 12:287. doi: 10.1007/s13205-022-03363-4.
[23] Rauluseviciute I, Riudavets-Puig R, Blanc-Mathieu R, et al. JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles[J]. Nucleic Acids Res, 2023, 52: 174-182. doi: 10.1093/nar/gkad1059.
[24] He J, Huo X, Pei G, et al. Dual-role transcription factors stabilize intermediate expression levels[J]. Cell, 2024, 187: 2746-2766. doi: 10.1016/j.cell.2024.03.023.
[25] Zhang Z, Fang T, Chen L, et al. Multi-omics Mendelian randomization integrating GWAS, eQTL, and mQTL data identified genes associated with breast cancer[J]. Am J Cancer Res. 2024, 14:1433-1445. doi: 10.62347/BCZW1355.

肿瘤相关内含子增强子区SNPs调控机制的研究进展

Research progress in the regulatory mechanism of tumor-associated intronic enhancer region SNPs

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

编辑推荐

Metrics

本文评价

[1]	刘睿琦, 张建民, 何维, 陈慧. FBXO2是Vδ1 γδ T细胞识别的肿瘤相关异位蛋白质配体[J]. 基础医学与临床, 2026, 46(7): 887-894.
[2]	李书翔, 潘玮瑄, 保永莉, 夏婉娉, 李雪媛, 郑永昌, 陈阳. 肝细胞癌肿瘤边界代谢空间异质性研究[J]. 基础医学与临床, 2026, 46(6): 815-822.
[3]	张帅, 王腾祺, 田永静, 庞健, 孙海滨, 雷馨文. KRT15调节胃癌免疫微环境并抑制恶性表型[J]. 基础医学与临床, 2026, 46(5): 658-665.
[4]	武懿, 夏丽坤. 嗅素蛋白4调控免疫炎性反应的研究进展[J]. 基础医学与临床, 2026, 46(4): 587-591.
[5]	刘靖靖, 李燕. 脂肪酸代谢重编程在弥漫性大B细胞淋巴瘤中的研究进展[J]. 基础医学与临床, 2026, 46(4): 582-586.
[6]	周慧聪, 邵亚娟. 老年肿瘤微环境对免疫检查点抑制剂治疗的影响[J]. 基础医学与临床, 2025, 45(9): 1139-1143.
[7]	王秋梅, 李孝远, 康琳, 孙晓红, 李海龙, 段艳平, 刘颖, 管梅, 赵林. 北京协和医院老年肿瘤患者综合评估的共识建议[J]. 基础医学与临床, 2025, 45(9): 1122-1131.
[8]	凌彩霞, 王春芳, 罗艳红. TMEM基因家族在肿瘤发生发展中的作用[J]. 基础医学与临床, 2025, 45(9): 1243-1247.
[9]	康磊, 竹俊兰. 硒结合蛋白 1在癌细胞中表达调控的分子机制[J]. 基础医学与临床, 2025, 45(9): 1224-1228.
[10]	田野, 何权, 王小娟. RPRD1B在人卵巢癌细胞系中高表达并促进肿瘤细胞增殖[J]. 基础医学与临床, 2025, 45(8): 1066-1072.
[11]	龙丽娟, 宋松泽, 叶棋浓, 蔺静. LSD1调控肿瘤免疫机制的研究进展[J]. 基础医学与临床, 2025, 45(8): 1088-1092.
[12]	秦怡, 王晓燕. 蛋白酪氨酸激酶-2在妇科肿瘤中的作用[J]. 基础医学与临床, 2025, 45(8): 1098-1102.
[13]	罗浩君, 孔德欣, 黄薇, 杨楠, 刘雁勇. 基于Hsp90的荧光分子探针的构建与胰腺肿瘤识别效应评价[J]. 基础医学与临床, 2025, 45(7): 905-911.
[14]	王大亚, 李志家, 赵德威, 陈熙猛. MMSN@Gem的构建及其抑制人膀胱癌细胞系BIU-87增殖和促凋亡[J]. 基础医学与临床, 2025, 45(6): 777-785.
[15]	郭安静, 陈翀, 罗云萍. PRTN3调控巨噬细胞表型及其抗肿瘤作用的初步研究[J]. 基础医学与临床, 2025, 45(6): 701-708.