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Published on: March 18, 2022
Decisive gene strategy on osteoarthritis: a comprehensive whole-literature based approach for conclusive gene targets
Yi-Chou Chen1,2, Yu-Chiao Wang3, Meng-Chang Lee3
1Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei 114201, Taiwan, R.O.C.
Background:
Previous meta-analyses only examined the association between single or several gene polymorphisms and osteoarthritis (OA), whereas no studies have concluded that there are existing all gene loci that associate with OA.
Objective:
To assess whether a definite conclusion of the association between the gene loci and OA can be drawn.
Methods:
Decisive gene strategy (DGS), a literature-based approach, was used to search PubMed, Embase, and Cochrane databases for all meta-analyses that associated gene polymorphisms and OA. Trial Sequential Analysis (TSA) examined the sufficiency of the cumulative sample size. Finally, we assessed the importance of gene loci in OA based on whether there were enough sample sizes and the heterogeneity of the literatures with I2 value.
Results:
After excluding 179 irrelevant publications, 80 meta-analysis papers were recruited. Among Caucasians, SMAD3 rs12901499 (OR = 1.20, 95% CI: 1.12-1.29) was a risk factor with validation of sufficient sample sizes through TSA model. Among Asians, there were 3 gene loci risk factors with validation of sufficient sample sizes through TSA model: ESR1 rs2228480, SMAD3 rs12901499, and MMP-1 rs1799750 (OR = 1.35, 95% CI: 1.08-1.69; OR = 1.34, 95% CI: 1.07-1.69; OR = 1.43, 95% CI: 1.18-1.74, respectively). Besides, 3 gene loci, DVWA rs7639618, GDF5 rs143383, and VDR rs7975232 (OR = 0.78, 95% CI: 0.67-0.90; OR = 0.74, 95% CI: 0.67-0.81; OR = 0.56, 95% CI: 0.35-0.90, respectively) were identified as protective factors through TSA model.
Conclusions:
We used DGS to identify conclusive gene loci associated with OA. These findings provide implications of precision medicine in OA and may potentially advance genetic therapy.
Insights
This study identified specific gene loci associated with osteoarthritis (OA) risk and protection using a decisive gene strategy. Findings support precision medicine approaches for osteoarthritis genetic therapy.
Area of Science:
- Genetics and genomics
- Osteoarthritis research
- Biostatistics
Background:
- Previous meta-analyses on osteoarthritis (OA) gene polymorphisms were limited in scope.
- No prior studies definitively identified all gene loci associated with OA.
Purpose of the Study:
- To determine if conclusive associations between specific gene loci and OA can be established.
- To identify validated genetic risk and protective factors for OA.
Main Methods:
- Decisive Gene Strategy (DGS) employed to systematically review meta-analyses on gene polymorphisms and OA.
- Searched PubMed, Embase, and Cochrane databases.
- Trial Sequential Analysis (TSA) used to assess sample size sufficiency and heterogeneity (I²).
Main Results:
- 80 meta-analyses were included, analyzing gene-OA associations.
- SMAD3 rs12901499 identified as an OA risk factor in Caucasians (OR=1.20).
- In Asians, ESR1 rs2228480, SMAD3 rs12901499, and MMP-1 rs1799750 were validated risk factors. DVWA rs7639618, GDF5 rs143383, and VDR rs7975232 were identified as protective factors.
Conclusions:
- DGS successfully identified conclusive gene loci associated with OA.
- These validated genetic factors have implications for precision medicine in OA.
- Findings may advance the development of targeted genetic therapies for osteoarthritis.
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