• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

整合 apaQTL 和 eQTL 分析鉴定出一个与中国人肺腺癌风险相关的潜在因果变异。

Integrating apaQTL and eQTL analysis identifies a potential causal variant associated with lung adenocarcinoma risk in the Chinese population.

机构信息

Department of Epidemiology, School of Public Health, Nantong University, Nantong, Jiangsu, China.

Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.

出版信息

Commun Biol. 2024 Jul 13;7(1):860. doi: 10.1038/s42003-024-06502-0.

DOI:10.1038/s42003-024-06502-0
PMID:39003419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11246497/
Abstract

Alternative polyadenylation (APA) plays a crucial role in cancer biology. Here, we used data from the 3'aQTL-atlas, GTEx, and the China Nanjing Lung Cancer GWAS database to explore the association between apaQTL/eQTL-SNPs and the risk of lung adenocarcinoma (LUAD). The variant T allele of rs277646 in NIT2 is associated with an increased risk of LUAD (OR = 1.12, P = 0.015), lower PDUI values, and higher NIT2 expression. The 3'RACE experiment showed multiple poly (A) sites in NIT2, with the rs277646-T allele causing preferential use of the proximal poly (A) site, resulting in a shorter 3'UTR transcript. This leads to the loss of the hsa-miR-650 binding site, thereby affecting LUAD malignant phenotypes by regulating the expression level of NIT2. Our findings may provide new insights into understanding and exploring APA events in LUAD carcinogenesis.

摘要

可变剪接（APA）在癌症生物学中起着至关重要的作用。在这里，我们使用了 3'aQTL-atlas、GTEx 和中国南京肺癌 GWAS 数据库的数据，来探索 apaQTL/eQTL-SNPs 与肺腺癌（LUAD）风险之间的关联。NIT2 中的 rs277646 变体 T 等位基因与 LUAD 的风险增加相关（OR=1.12，P=0.015），PDUI 值降低，NIT2 表达升高。3'RACE 实验显示 NIT2 中有多个多聚（A）位点，rs277646-T 等位基因导致近端多聚（A）位点的优先使用，从而导致 3'UTR 转录物变短。这导致 hsa-miR-650 结合位点丢失，从而通过调节 NIT2 的表达水平影响 LUAD 的恶性表型。我们的研究结果可能为理解和探索 LUAD 癌变过程中的 APA 事件提供新的思路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/d1c5822bd50b/42003_2024_6502_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c36171d4918e/42003_2024_6502_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/123126dbd110/42003_2024_6502_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c3fba71f1880/42003_2024_6502_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/7057d585030e/42003_2024_6502_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/4c55a9dc7d1f/42003_2024_6502_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c6e1bcb65153/42003_2024_6502_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/d1c5822bd50b/42003_2024_6502_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c36171d4918e/42003_2024_6502_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/123126dbd110/42003_2024_6502_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c3fba71f1880/42003_2024_6502_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/7057d585030e/42003_2024_6502_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/4c55a9dc7d1f/42003_2024_6502_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/c6e1bcb65153/42003_2024_6502_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d848/11246497/d1c5822bd50b/42003_2024_6502_Fig7_HTML.jpg

相似文献

1
Integrating apaQTL and eQTL analysis identifies a potential causal variant associated with lung adenocarcinoma risk in the Chinese population.整合 apaQTL 和 eQTL 分析鉴定出一个与中国人肺腺癌风险相关的潜在因果变异。
Commun Biol. 2024 Jul 13;7(1):860. doi: 10.1038/s42003-024-06502-0.
2
Integration of apaQTL and eQTL analysis reveals novel SNPs associated with occupational pulmonary fibrosis risk.apaQTL 和 eQTL 分析的整合揭示了与职业性肺纤维化风险相关的新 SNPs。
Arch Toxicol. 2024 Jul;98(7):2117-2129. doi: 10.1007/s00204-024-03734-1. Epub 2024 Mar 27.
3
A Novel apaQTL-SNP for the Modification of Non-Small-Cell Lung Cancer Susceptibility across Histological Subtypes.一种用于改变不同组织学亚型非小细胞肺癌易感性的新型apaQTL-SNP
Cancers (Basel). 2022 Oct 28;14(21):5309. doi: 10.3390/cancers14215309.
4
3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues.3'aQTL-atlas：人类正常组织中 3'UTR 可变多聚腺苷酸化数量性状位点图谱。
Nucleic Acids Res. 2022 Jan 7;50(D1):D39-D45. doi: 10.1093/nar/gkab740.
5
Crosstalk among Alternative Polyadenylation, Genetic Variants and Ubiquitin Modification Contribute to Lung Adenocarcinoma Risk.可变多聚腺苷酸化、遗传变异和泛素修饰之间的串扰导致肺腺癌风险增加。
Int J Mol Sci. 2024 Jul 24;25(15):8084. doi: 10.3390/ijms25158084.
6
Genetic Variants That Impact Alternative Polyadenylation in Cancer Represent Candidate Causal Risk Loci.影响癌症中可变多聚腺苷酸化的遗传变异代表候选因果风险位点。
Cancer Res. 2023 Nov 1;83(21):3650-3666. doi: 10.1158/0008-5472.CAN-23-0251.
7
Transcriptome-wide association study of alternative polyadenylation identifies susceptibility genes in non-small cell lung cancer.全转录组范围的可变聚腺苷酸化关联研究确定了非小细胞肺癌中的易感基因。
Oncogene. 2025 Apr 9. doi: 10.1038/s41388-025-03338-8.
8
Identification of novel pQTL-SNPs associated with lung adenocarcinoma risk: A multi-stage study.鉴定与肺腺癌风险相关的新型 pQTL-SNPs：一项多阶段研究。
Cancer Med. 2024 Sep;13(17):e70247. doi: 10.1002/cam4.70247.
9
Identifying novel chemical-related susceptibility genes for five psychiatric disorders through integrating genome-wide association study and tissue-specific 3'aQTL annotation datasets.通过整合全基因组关联研究和组织特异性3'aQTL注释数据集，鉴定五种精神疾病与化学物质相关的新型易感基因。
Eur Arch Psychiatry Clin Neurosci. 2025 Apr;275(3):851-862. doi: 10.1007/s00406-023-01753-0. Epub 2024 Feb 2.
10
Alternative polyadenylation quantitative trait loci contribute to acute myeloid leukemia risk genes regulation.可变聚腺苷酸化数量性状基因座有助于急性髓系白血病风险基因的调控。
Leuk Res. 2024 Jun;141:107499. doi: 10.1016/j.leukres.2024.107499. Epub 2024 Apr 9.

引用本文的文献

1
Mendelian randomization study on the association of circulating ketone bodies with lung cancer and respiratory diseases.关于循环酮体与肺癌及呼吸道疾病关联的孟德尔随机化研究。
Sci Rep. 2024 Dec 4;14(1):30205. doi: 10.1038/s41598-024-81591-9.

本文引用的文献

1
Identification of the consistently differential expressed hub mRNAs and proteins in lung adenocarcinoma and construction of the prognostic signature: a multidimensional analysis.肺腺癌中一致性差异表达的核心 mRNA 和蛋白质的鉴定及预后标志物的构建：多维分析。
Int J Surg. 2024 Feb 1;110(2):1052-1067. doi: 10.1097/JS9.0000000000000943.
2
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk.解读三种RNA剪接相关基因变异与肺癌风险之间的关联。
NPJ Precis Oncol. 2022 Jun 30;6(1):48. doi: 10.1038/s41698-022-00281-9.
3
Indoor Air Pollution Increases the Risk of Lung Cancer.
室内空气污染增加肺癌风险。
Int J Environ Res Public Health. 2022 Jan 21;19(3):1164. doi: 10.3390/ijerph19031164.
4
Dynamic Variations of 3'UTR Length Reprogram the mRNA Regulatory Landscape.3'非翻译区长度的动态变化重塑mRNA调控格局。
Biomedicines. 2021 Oct 28;9(11):1560. doi: 10.3390/biomedicines9111560.
5
3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues.3'aQTL-atlas：人类正常组织中 3'UTR 可变多聚腺苷酸化数量性状位点图谱。
Nucleic Acids Res. 2022 Jan 7;50(D1):D39-D45. doi: 10.1093/nar/gkab740.
6
Identification of macrophage related gene in colorectal cancer patients and their functional roles.结直肠癌患者巨噬细胞相关基因的鉴定及其功能作用。
BMC Med Genomics. 2021 Jun 13;14(1):159. doi: 10.1186/s12920-021-01010-0.
7
Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries.《全球癌症统计数据 2020：全球 185 个国家和地区 36 种癌症的发病率和死亡率估计》。
CA Cancer J Clin. 2021 May;71(3):209-249. doi: 10.3322/caac.21660. Epub 2021 Feb 4.
8
The GTEx Consortium atlas of genetic regulatory effects across human tissues.GTEx 联盟人类组织遗传调控效应图谱
Science. 2020 Sep 11;369(6509):1318-1330. doi: 10.1126/science.aaz1776.
9
Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.全面的功能注释易感性变异体确定肺腺癌和鳞状细胞癌之间的遗传异质性。
Front Med. 2021 Apr;15(2):275-291. doi: 10.1007/s11684-020-0779-4. Epub 2020 Sep 5.
10
Systematic identification of functional SNPs interrupting 3'UTR polyadenylation signals.系统识别中断 3'UTR 多聚腺苷酸化信号的功能 SNPs。
PLoS Genet. 2020 Aug 17;16(8):e1008977. doi: 10.1371/journal.pgen.1008977. eCollection 2020 Aug.