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The Potential Role of Genomic Medicine in the Therapeutic Management of Rheumatoid Arthritis
Marialbert Acosta-Herrera1, David González-Serna2, Javier Martín3
1Institute of Parasitology and Biomedicine López-Neyra, CSIC, Av. del Conocimiento 17. Armilla, 18016 Granada, Spain. m.acostaherrera@ipb.csic.es.
Abstract:
During the last decade, important advances have occurred regarding understanding of the pathogenesis and treatment of rheumatoid arthritis (RA). Nevertheless, response to treatment is not universal, and choosing among different therapies is currently based on a trial and error approach. The specific patient's genetic background influences the response to therapy for many drugs: In this sense, genomic studies on RA have produced promising insights that could help us find an effective therapy for each patient. On the other hand, despite the great knowledge generated regarding the genetics of RA, most of the investigations performed to date have focused on identifying common variants associated with RA, which cannot explain the complete heritability of the disease. In this regard, rare variants could also contribute to this missing heritability as well as act as biomarkers that help in choosing the right therapy. In the present article, different aspects of genetics in the pathogenesis and treatment of RA are reviewed, from large-scale genomic studies to specific rare variant analyses. We also discuss the shared genetic architecture existing among autoimmune diseases and its implications for RA therapy, such as drug repositioning.
Insights
Genomic studies in rheumatoid arthritis (RA) reveal genetic factors influencing treatment response. Investigating rare variants alongside common ones may unlock personalized therapies and improve outcomes for RA patients.
Area of Science:
- Rheumatology
- Genetics
- Pharmacogenomics
Background:
- Rheumatoid arthritis (RA) treatment response is variable, often relying on trial-and-error.
- Understanding the genetic basis of RA is crucial for personalized medicine.
Purpose of the Study:
- To review the role of genetics in RA pathogenesis and treatment.
- To explore how genomic insights, including rare variants, can guide RA therapy selection.
Main Methods:
- Review of large-scale genomic studies in RA.
- Analysis of rare variant contributions to RA heritability and treatment response.
- Discussion of shared genetic architecture among autoimmune diseases.
Main Results:
- Common genetic variants explain only part of RA heritability.
- Rare variants may contribute to missing heritability and serve as therapeutic biomarkers.
- Shared genetic factors across autoimmune diseases offer potential for drug repositioning in RA.
Conclusions:
- Genomic approaches are vital for understanding RA pathogenesis and personalizing treatment.
- Rare variant analysis holds promise for identifying novel biomarkers and optimizing RA therapies.
- Exploring shared genetic architectures can lead to new therapeutic strategies, including drug repositioning for RA.
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