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Tissue Collection and RNA Extraction from the Human Osteoarthritic Knee Joint
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Association between genetic polymorphisms and osteoarthritis development. Overview of systematic reviews
Amanda Almeida Brisola1, Mileny Esbravatti Stephano Colovati2, Mirlene Cecilia Soares Pinho Cernach1,3
1Universidade Metropolitana de Santos (UNIMES), Santos, Brazil.
International Journal of Rheumatic Diseases
|June 9, 2022
Summary
Genetic variations in genes like GDF-5 and SMAD3 show potential links to osteoarthritis (OA) development, offering insights into disease risk and protection. Further high-quality research is crucial for confirmation and clinical application in OA.
Area of Science:
- Genetics
- Rheumatology
- Osteoarthritis Research
Background:
- Osteoarthritis (OA) is a prevalent degenerative joint disease with complex etiology.
- Genetic factors are increasingly recognized as significant contributors to OA susceptibility.
- Systematic reviews provide a valuable platform for synthesizing evidence on gene-OA associations.
Purpose of the Study:
- To critically evaluate and synthesize existing systematic reviews on the association between genetic polymorphisms and OA development.
- To identify specific gene polymorphisms linked to OA risk or protection.
- To assess the methodological quality of the included systematic reviews.
Main Methods:
- Comprehensive literature search across multiple databases (MEDLINE, Embase, Cochrane, BVS) and gray literature (OpenGrey).
- Inclusion of systematic reviews of case-control studies investigating gene polymorphisms and OA.
- Methodological quality assessment using the AMSTAR-2 tool.
Main Results:
- Fourteen systematic reviews were included, analyzing various gene polymorphisms in OA patients versus healthy controls.
- Meta-analyses indicated a protective effect for GDF-5 gene variants against knee and hand OA.
- SMAD3 gene polymorphisms were associated with increased risk of knee and hip OA, while MMP-1 was linked to temporomandibular OA.
Conclusions:
- Current evidence, derived from low-quality systematic reviews, suggests potential associations between certain gene polymorphisms and OA risk or protection.
- Significant limitations in the quality of existing reviews necessitate further high-quality studies.
- Validated findings could enhance understanding, early diagnosis, and treatment strategies for osteoarthritis.
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