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Updated: Jul 4, 2026
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Molecular endotypes in musculoskeletal disorders: a systematic review
Ming Liu1, Jingyi Huang1, Ali Mobasheri2,3,4,5
1Human Genetics & Genomics, Division of Biomedical Sciences, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada.
Background:
Musculoskeletal (MSK) disorders are highly heterogeneous and have diverse cellular and molecular pathobiological mechanisms, termed "endotypes". This systematic review aimed to summarize current knowledge of molecular endotypes in MSK disorders.
Methods:
This review was conducted and reported in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA). Five databases including PubMed, Web of Science, Scopus, Ovid Medline, and Embase were searched for publications on molecular endotypes of MSK disorders classified by the International Classification of Diseases 11th Revision (ICD-11) that were published prior to September 1st, 2024. Articles were included if they were peer-reviewed original research articles on adult-onset human MSK disorder molecular endotypes/subtypes that used directly collected human specimen, in English language, and had full text available. Citations of the included studies were also screened manually using the same inclusion criteria.
Results:
Our search identified 44,660 unique records and 34 eligible studies were included. The majority of these studies focused on osteoarthritis (OA, n = 14) and rheumatoid arthritis (RA, n = 12), with a small number of studies focused on other MSK conditions. In OA, high- and low-inflammation clusters were consistently identified using different types of samples, and high- and low-pain clusters were observed in several other studies. In RA, endotypes with different levels of inflammation markers or treatment responses were reported in several studies, and one study reported that RA patients displayed two different dysbiotic microbiota patterns which corresponded to different responses to treatments.
Conclusions:
MSK endotype research is still in its early stage. More endotype studies on MSK disorders are needed to assist in designing clinical trials and developing personalized therapy strategies.
Insights
This review summarizes molecular endotypes in musculoskeletal (MSK) disorders, finding early-stage research. More studies are needed to develop personalized therapies for conditions like osteoarthritis and rheumatoid arthritis.
Area of Science:
- Rheumatology and Immunology
- Genomics and Molecular Biology
- Translational Medicine
Background:
- Musculoskeletal (MSK) disorders exhibit significant heterogeneity with diverse underlying molecular mechanisms, known as endotypes.
- Understanding these molecular endotypes is crucial for advancing diagnosis and treatment of MSK conditions.
Purpose of the Study:
- To systematically review and synthesize current knowledge on molecular endotypes across various MSK disorders.
- To identify research gaps and inform future directions in MSK endotype investigation.
Main Methods:
- A comprehensive systematic review adhering to PRISMA guidelines was conducted.
- Searches across five major databases (PubMed, Web of Science, Scopus, Ovid Medline, Embase) were performed for studies published before September 1st, 2024.
- Inclusion criteria focused on peer-reviewed original research of adult-onset human MSK disorders using human specimens, with manual citation screening.
Main Results:
- Out of 44,660 records, 34 studies were included, predominantly focusing on osteoarthritis (OA) and rheumatoid arthritis (RA).
- Consistent findings in OA revealed high- and low-inflammation clusters, and in other MSK conditions, high- and low-pain clusters.
- RA studies identified distinct inflammatory profiles, treatment responses, and even distinct gut microbiota patterns linked to treatment outcomes.
Conclusions:
- Research into MSK endotypes is currently in its nascent stages.
- Further dedicated endotype studies are essential for optimizing clinical trial design.
- Advancing endotype research will facilitate the development of personalized therapeutic strategies for MSK disorders.
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