Evidence map›Paper›PMID 40892298›Full record

ArticleFunctional & integrative genomics2025

Genetic variants of LncRNA associated with splicing regulation and their impact on ovarian cancer development.

Lingxiao Zou, Meng Zhang, Shan He, Minhui Zhuang, Wenjing Jia, Yulan Wang, Jingjing Liu, Yixuan Wang, Xiaofeng Song, Jian Zhao

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Article in Functional & integrative genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Lingxiao ZouDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Meng ZhangSchool of Mathematics and Statistics Science, Ludong University, Yantai, 264025, China.
Shan HeDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Minhui ZhuangDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Wenjing JiaDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Yulan WangSchool of Medical Information, Wannan Medical College, Wuhu, China.
Jingjing LiuDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Yixuan WangDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.
Xiaofeng SongDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China. xfsong@nuaa.edu.cn.
Jian ZhaoDepartment of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China. zhaojian@nuaa.edu.cn.

Funding

Fundamental Research Funds for the Central Universities NS2023017Jiangsu Provincial Key Research and Development Program BE2022843National Natural Science Foundation of China 62273175
6 · The paper itself

Abstract

Ovarian cancer (OC) is a highly lethal gynecologic malignancy that lacks reliable early biomarkers. Numerous long non-coding RNAs (lncRNAs) have been found to play critical regulatory roles in OC, yet the mechanisms underlying most of them remain unclear. Recently, lncRNAs have emerged as key regulators of RNA splicing, while splicing dysregulation is widespread and plays critical roles in cancer. In addition, genetic variants of splicing regulators have been shown to contribute to disease etiology. In this study, we comprehensively analyzed 202 °C samples and characterized 21,129 lncRNA splicing quantitative trait loci (sQTLs) involving both event-level and transcript-level. We found that lncRNA sQTLs differ significantly from lncRNA expression quantitative trait loci (eQTLs), and genes regulated by lncRNA sQTLs are involved in cancer hallmark pathways and associated with immune cell infiltration and drug sensitivity. Additionally, these lncRNA sQTLs are significantly enriched in histone markers, transcription factor (TF) binding sites, and RNA-binding protein (RBP) binding sites, including several critical splicing factors (SF) in OC. Based on SF binding and partial correlation analysis, a potential lncRNA-SF-mRNA regulatory network was constructed. Finally, by integrating GWAS data, we elucidated that a specific lncRNA sQTL rs1549334 generates different isoforms by regulating the splicing of the HOXD3 gene and thus impacting OC risk. Our study provides new insights into the mechanisms of splicing regulation in OC involving lncRNA sQTL and reveals potential biomarkers for early detection and clinical treatment of OC.

Indexed as

Ovarian NeoplasmsQuantitative Trait LociRNA, Long NoncodingRNA SplicingFemaleGene Expression Regulation, NeoplasticGene Regulatory NetworksHumansRNA Splicing FactorsRNA, Long NoncodingRNA Splicing FactorsAlternative splicingLong non-coding RNAOvarian cancerSplicing quantitative trait loci

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.