Evidence map›Paper›PMID 41134489›Full record

ArticleClinical rheumatology2025

Association of macrophage colony-stimulating factor 1 and its locus with osteoarthritis: Mendelian randomization and colocalization analysis.

Junjie Wang, Yuxuan Li, Husen Wang, Jun Li, Qing Ma, Yu Li, Qinghu Ma, Lvlin Yang

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Article in Clinical rheumatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Junjie WangDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Yuxuan LiDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Husen WangDepartment of Sports Medicine, The Sixth Affiliated Hospital of Xinjiang Medical University, Urumqi, 840002, Xinjiang, China.
Jun LiDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Qing MaDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Yu LiDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Qinghu MaDepartment of Orthopedics, The Third Clinical Medical College, Ningxia Medical University, Yinchuan, 750001, Ningxia, China.
Lvlin YangDepartment of Orthopedics, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Yinchuan, 301 Zhengyuan Street, Jinfeng District, Yinchuan City, 750001, Ningxia, China. yanglvlin2020@163.com.ORCID http://orcid.org/0000-0002-9029-7842

Funding

the Key Research and Development Program of Ningxia Hui Autonomous Region 2022BEG03101the Natural Science Foundation of Ningxia (Young Elite Program) 2022AAC05051the Science and Technology Innovation Project of Yinchuan City 2021-SF-011
6 · The paper itself

Abstract

backgroundWith the rising prevalence of osteoarthritis (OA), this disease places a substantial economic burden on society. Nevertheless, there is still a lack of effective therapeutic agents to completely cure OA. This study thus aims to identify potential genetic targets that might influence the progression of OA.

methodsUsing Mendelian randomization (MR), the correlation between the levels of macrophage colony-stimulating factor (CSF-1) and its associated genetic loci with OA at different anatomical sites was investigated. Data were primarily obtained from the arcOGEN Consortium, the UK Biobank, and other relevant sources. Additionally, Summary Data-based Mendelian Randomization (SMR), Mendelian Randomization, and colocalization analysis were used to examine the relation of 16,989 cis-eQTL genes from the eQTLGen database with OA at various locations, to facilitate the identification of potential genetic loci that might affect the progression of OA.

resultsThrough MR analysis of two databases, we found a direct correlation between CSF-1 levels and knee OA (OR = 1.08, 95% CI = 1.02-1.15; OR = 1.18, 95% CI = 1.03-1.35). Further gene screening and colocalization analysis confirmed that FLOT1, IER3, and STRIP1 are positively correlated with knee OA, while TMEM171 is negatively correlated with hand OA.

conclusionThis study employed MR analysis to explore the causal relationship between CSF-1 and osteoarthritis, revealing a potential causal link between high levels of macrophage colony-stimulating factor and increased risk of knee osteoarthritis. Additionally, through various analytical methods, we identified four potential genetic targets: FLOT1, IER3, STRIP1, and TMEM171. These findings offer new insights into the genetic foundation of osteoarthritis and provide potential targets for future treatment strategies. Key Points • We provided genetic evidence supporting the use of MR methods to demonstrate a causal relationship between knee osteoarthritis and CSF-1 and its genetic loci. • Four genetic loci are potentially associated with the progression of osteoarthritis.

Indexed as

Macrophage Colony-Stimulating FactorOsteoarthritisOsteoarthritis, KneeDisease ProgressionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMendelian Randomization AnalysisPolymorphism, Single NucleotideQuantitative Trait LociCSF1 protein, humanMacrophage Colony-Stimulating FactorColocalization analysisCSF-1Drug targetsMendelian randomizationOsteoarthritis

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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.