ABSTRACT
OBJECTIVE: Studies have assessed the association between aspartic acid (D)-repeat polymorphism in the gene encoding Asporin (ASPN) and knee osteoarthritis (KOA) risk, but the results were inconclusive and contradictory. Therefore, we performed a meta-analysis to investigate the association between ASPN gene D-repeat polymorphism and KOA risk. METHODS: Eligible studies were identified by searching several electronic databases for relevant reports published before September 2016. The pooled odds ratios (ORs) for the association between ASPN polymorphism and KOA and their corresponding 95% confidence intervals (CIs) were estimated using the random- or fixed-effect model. RESULTS: A total of eleven case-control studies in ten publications with 4610 KOA cases and 3621 controls were included for the ASPN D-repeat polymorphism. Overall, no significant association was detected for D14 allele carrier (D14 vs. D13: OR = 1.10, 95% CI = 0.90-1.36, p = 0.32). Meta-analysis of D14 vs. other alleles and D13 vs. other alleles showed the same pattern of KOA association as the D14 vs. D13 (OR = 1.30, 95% CI = 1.00-1.70, p = 0.06; OR = 0.93, 95% CI = 0.82-1.06, p = 0.33, respectively). Also, in the stratified analysis by ethnicity, no significant association of this polymorphism with risk of KOA was found in the European and Asians populations (OR = 1.05, 95% CI = 0.91-1.21, p = 0.49; OR = 0.98, 95% CI = 0.78-1.23, p = 0.88, respectively). CONCLUSIONS: The present meta-analysis suggests that the ASPN D-repeat polymorphism is not associated with an increased KOA risk. However, future large studies with gene-gene and gene-environment interactions are needed to validate these findings. LEVEL OF EVIDENCE: Level III diagnostic study.
Subject(s)
Extracellular Matrix Proteins/genetics , Osteoarthritis, Knee/genetics , D-Aspartic Acid/metabolism , Humans , Polymorphism, GeneticABSTRACT
Background: To date, only a few studies have investigated associations between ERCC2, NBN, and RAD51 variants and risk of developing osteosarcoma. In this systematic review and meta-analysis, we focused on clarifying links. Materials and Methods: We systematically searched PubMed, Google Scholar, and ISI web of knowledge databases to identify relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to calculate the strength of associations with fixed effect models. Results: No statistical evidence of association was found between ERCC2 rs13181 (G vs. T: OR= 1.224, 95% CI: 0.970-1.545, p= 0.088; GT vs. TT: OR= 1.135, 95% CI: 0.830-1.552, p= 0.428; GG vs. TT: OR= 1.247, 95% CI: 0.738-2.108, p= 0.409; GG+GT vs. TT: OR= 1.174, 95% CI: 0.929-1.484, p= 0.179; GG vs. GT+TT: OR= 1.476, 95% CI: 0.886-2.460, p= 0.135), ERCC2 rs1799793 (GA+AA vs. GG: OR= 1.279, 95% CI: 0.912-1.793, p= 0.154), NBN rs709816 (OR= 1.047, 95% CI: 0.763-1.437, p= 0.775), NBN rs1805794 (OR= 1.126, 95% CI: 0.789-1.608, p= 0.513), RAD51 rs1801320 (OR= 0.977, 95% CI: 0.675-1.416, p= 0.904), RAD51 rs1801321 (TT+GT vs. GG: OR= 1.167, 95% CI: 0.848-1.604, p= 0.343), RAD51 rs12593359 (GG+GT vs. TT: OR= 0.761, 95% CI: 0.759-1.470, p= 0.744) polymorphisms and osteosarcomas. The lack of the original data limited our further evaluation of the adjusted ORs concerning age and gender; however, the previous individual studies results indicated the age- and gender-specific effects of two ERCC2 rs1799793 and NBN rs1805794 variants on osteosarcoma risk. Conclusion: The results suggested a lack of association between the ERCC2 (rs13181 and rs1799793), NBN (rs709816 and rs1805794), and RAD51 (rs1801320, rs1801321, and rs12593359) variants with osteosarcoma risk. Further comprehensive and well-designed studies are required to assess the role for ERCC2, NBN, RAD51 variants in osteosarcoma development more adequately.
