Suzan Chen1, Linlu Zhao2, Darren M Roffey3, Philippe Phan4, Eugene K Wai5. 1. University of Ottawa Spine Program, The Ottawa Hospital, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9. Electronic address: suzan.chen@gmail.com. 2. Department of Chronic Disease Epidemiology, Yale School of Public Health, 60 College St., New Haven, CT, USA, 06510. 3. University of Ottawa Spine Program, The Ottawa Hospital, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9; Clinical Epidemiology Program, Ottawa Hospital Research Institute, 725 Parkdale Ave., Ottawa, Ontario, Canada, K1Y 4E9. 4. University of Ottawa Spine Program, The Ottawa Hospital, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9; Division of Orthopaedic Surgery, Department of Surgery, University of Ottawa, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9. 5. University of Ottawa Spine Program, The Ottawa Hospital, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9; Clinical Epidemiology Program, Ottawa Hospital Research Institute, 725 Parkdale Ave., Ottawa, Ontario, Canada, K1Y 4E9; Division of Orthopaedic Surgery, Department of Surgery, University of Ottawa, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9.
Abstract
BACKGROUND CONTEXT: The rs11190870 single nucleotide polymorphism in the 3'-flanking region of the LBX1 gene has been implicated in the etiology of adolescent idiopathic scoliosis (AIS). A thorough appraisal of the evidence supporting this association has not been previously attempted. PURPOSE: To provide a comprehensive assessment and synthesis of the currently available evidence on the association between rs11190870 and AIS. STUDY DESIGN: A systematic review and meta-analysis. METHODS: This review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. PubMed (MEDLINE), EMBASE, Scopus, and HuGE Literature Finder databases were systematically searched through November 2013 to identify relevant studies following a sensitive strategy. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using the fixed-effect inverse variance model for allelic (T vs. C) and genotypic comparisons. RESULTS: Meta-analysis of four studies conducted in East Asian populations (n=3,215 AIS cases and n=15,347 controls) found a highly statistically significant and robust association between rs11190870 and AIS. Comparison of summary ORs indicated a codominant model effect of the T allele. Carriers of the TC and TT genotypes were 69% (OR=1.69, 95% CI: 1.48-1.94, p<.001) and 162% (OR=2.62, 95% CI: 2.28-3.02, p<.001), respectively, more likely to have AIS compared with carriers of the CC genotype. CONCLUSIONS: Based on a comprehensive analysis of the currently available evidence, rs11190870 is likely a susceptibility variant for AIS in East Asians. Further investigation of this association is necessary in other populations.
BACKGROUND CONTEXT: The rs11190870 single nucleotide polymorphism in the 3'-flanking region of the LBX1 gene has been implicated in the etiology of adolescent idiopathic scoliosis (AIS). A thorough appraisal of the evidence supporting this association has not been previously attempted. PURPOSE: To provide a comprehensive assessment and synthesis of the currently available evidence on the association between rs11190870 and AIS. STUDY DESIGN: A systematic review and meta-analysis. METHODS: This review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. PubMed (MEDLINE), EMBASE, Scopus, and HuGE Literature Finder databases were systematically searched through November 2013 to identify relevant studies following a sensitive strategy. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using the fixed-effect inverse variance model for allelic (T vs. C) and genotypic comparisons. RESULTS: Meta-analysis of four studies conducted in East Asian populations (n=3,215 AIS cases and n=15,347 controls) found a highly statistically significant and robust association between rs11190870 and AIS. Comparison of summary ORs indicated a codominant model effect of the T allele. Carriers of the TC and TT genotypes were 69% (OR=1.69, 95% CI: 1.48-1.94, p<.001) and 162% (OR=2.62, 95% CI: 2.28-3.02, p<.001), respectively, more likely to have AIS compared with carriers of the CC genotype. CONCLUSIONS: Based on a comprehensive analysis of the currently available evidence, rs11190870 is likely a susceptibility variant for AIS in East Asians. Further investigation of this association is necessary in other populations.
Authors: Patrick M Carry; Elizabeth A Terhune; George D Trahan; Lauren A Vanderlinden; Cambria I Wethey; Parvaneh Ebrahimi; Fiona McGuigan; Kristina Åkesson; Nancy Hadley-Miller Journal: Genes (Basel) Date: 2021-07-30 Impact factor: 4.096