已发表论文

乳腺癌中 CTBP1 的组织和细胞类型特异性遗传调控:结合探索性单细胞和成像数据的综合分析

 

Authors Hong M, Huang X, Xu Q, Ma Z, Ling K 

Received 12 August 2025

Accepted for publication 25 November 2025

Published 1 December 2025 Volume 2025:17 Pages 1133—1143

DOI https://doi.org/10.2147/BCTT.S560038

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Robert Clarke

Minping Hong,1 XiaoWen Huang,1 Qin Xu,1 Zhenyi Ma,1,* Keng Ling2,* 

1Radiology Department, Jiaxing Hospital of Traditional Chinese Medicine, Jiaxing, Zhejiang, 314000, People’s Republic of China; 2Clinical Laboratory, Jiaxing Maternity and Children Health Care Hospital, Jiaxing, Zhejiang, 314000, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Keng Ling, Clinical Laboratory, Jiaxing Maternity and Children Health Care Hospital, Jiaxing, Zhejiang, 314000, People’s Republic of China, Email 450620239@qq.com Zhenyi Ma, Radiology department, Jiaxing Hospital of Traditional Chinese Medicine, No. 1501 Zhongshan East Road, Nanhu District, Jiaxing, Zhejiang, 314000, People’s Republic of China, Email 172702978@qq.com

Background: CTBP1, an NADH-dependent transcriptional co-repressor subject to succinylation, may orchestrate both systemic and cell-type–specific effects on tumor development.
Methods: This integrative study represents a novel approach, combining genetic regulation, single-cell expression quantitative trait loci (eQTLs), and imaging radiomics to investigate CTBP1 in breast cancer. We integrated tissue-relevant eQTLs with breast cancer GWAS to evaluate genetically proxied associations for CTBP1. We further explored cell-type–dependent effects using single-cell eQTL resources and examined expression, survival, and imaging correlations as hypothesis-generating evidence.
Results: Tissue-focused analyses suggested an inverse association between CTBP1 expression and breast cancer risk, with consistent directions observed in expression and survival datasets. Single-cell explorations indicated potential cell-type–specific regulation.Imaging correlations with MRI-derived features were modest and exploratory.
Conclusion: Our results prioritise CTBP1 as a context-dependent, tissue- and cell-type–specific candidate in breast cancer. The observational and exploratory components warrant validation in larger cohorts and functional assays. To our knowledge, this is the first integrative study combining GWAS, single-cell eQTL and MRI radiomics to prioritize CTBP1 in breast cancer.

Keywords: CTBP1, breast cancer, single-cell RNA-seq, single-cell eQTL, Mendelian randomization, DCE-MRI radiomics, cell–cell communication