Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis in East Asians: a systematic review and meta-analysis.

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.