Evidence map›Paper›PMID 41437054›Full record

ArticleBMC medical genomics2025

Chromosome structural variation analysis reveals lung cancer-associated gene regulatory networks in rheumatoid arthritis patients.

Heng Li, Liping Ding, Rui Liao, Nini Li, Xiaoping Hong, Zhenyou Jiang, Dongzhou Liu

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Article in BMC medical 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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5 · Who and what money

Authors and funding

7 authors.

Heng Li *Department of Rheumatology and Immunology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China. lconstant@foxmail.com.
Liping Ding *Department of Rheumatology and Immunology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China.
Rui LiaoDepartment of Rheumatology and Immunology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China.
Nini LiDepartment of Pathology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China.
Xiaoping HongDepartment of Rheumatology and Immunology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China.
Zhenyou JiangDepartment of Microbiology and Immunology, School of Medicine, Jinan University, Guangzhou, China.
Dongzhou LiuDepartment of Rheumatology and Immunology, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen, 518020, China. liu_dz2001@sina.com.

Funding

National Natural Science Foundation of China 81971464Sanming Project of Medicine in Shenzhen SZSM201512019
6 · The paper itself

Abstract

backgroundChromosomal structural variations (CSVs) that comprise multiple gene mutations are important determinants for multiple diseases. However, the relationship between CSVs, rheumatoid arthritis (RA), and lung cancer is not well understood. MATERIALS AND

methodsIn this study, we analyzed CSV associations and differences between RA and RA with lung cancer (RA LC) using genome sequencing, with RA-associated interstitial lung disease (RA ILD) as a disease control. First, we analyzed the CSVs of each individual. Then, we identified common CSVs within each disease group and finally analyzed specific CSVs between different diseases. Gene Ontology/KEGG terms, canonical pathways, and feature gene sets were used for the functional annotation and analysis of CSV-related pathways.

resultsCell size regulation and axon guidance were mutated in all disease groups. Protein deubiquitination was mutated in RA LC, while the negative regulation of extractable stroma and protein catabolism was mutated in RA ILD. Characterization of clinical data also revealed correlations with these specific pathways.

conclusionThis study identifies common and specific CSVs and associated pathways for RA, LC, and ILD, uncovering key genetic factors that provide new insights into their diagnosis and treatment.

Indexed as

Arthritis, RheumatoidChromosome AberrationsGene Regulatory NetworksLung NeoplasmsFemaleHumansLung Diseases, InterstitialMaleMiddle AgedMutationChromosome structural variationsInterstitial lung diseaseLung cancerRheumatoid arthritis

Identifiers

PMID41437054
PMCPMC12838470

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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.