Association Between rs11190870 Polymorphism Near LBX1 and Susceptibility to Adolescent Idiopathic Scoliosis in East Asian Population

Study Design. Meta-analysis to collect all the relevant studies to date to further investigate whether or not the rs11190870 polymorphism is associated with susceptibility to adolescent idiopathic scoliosis (AIS) in East Asian population. Objective. To investigate whether or not the rs11190870 polymorphism is associated with susceptibility to AIS in East Asian population. Summary of Background Data. To date, the single nucleotide polymorphism rs11190870 was identified as the most significant common variant in Japanese females. Three association studies conducted in Chinese Han population from Hong Kong, Yangtze River region, and Southern region of mainland China replicated the association between AIS and rs1190870. However, there is limited published data about the association of rs11190870 with AIS in East Asian population. Methods. A systematic search of all relevant studies published through August 2013 was conducted using the MEDLINE, EMBASE, OVID, and ScienceDirect. Single nucleotide polymorphism of rs11190870 was evaluated. The included studies were assessed in the analysis of the following allele model: T allele versus C allele for the allele-level comparison; (b) TC + TT versus CC for dominant model of T allele; (c) TT versus TC + CC for recessive model of T allele, and (d) TT versus CC for extreme genotype. Results. Four studies with 8415 total participants (2889 patients with AIS and 5526 controls), who were all East Asian population, were eligible for inclusion. We searched for genotypes T allele versus C allele, TT versus TC + CC, TC + TT versus CC, and TT versus CC in a fixed/random-effects model. The effect summary odds ratios and 95 % confidence intervals were obtained, which shows significant association between rs11190870 and AIS in East Asian populations (all genetic models P < 0.001). Subgroup analyses were conducted according to sex. The results showed a significant association between rs11190870 and AIS in female (all genetic models, P < 0.001) but not in male (all genetic models, P > 0.05). Conclusion. The present meta-analysis demonstrated that the T allele of single nucleotide polymorphism rs11190870 may be a major susceptibility locus in the East Asian population with AIS, especially in female.