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Spine J. 2014 Dec 1;14(12):2968-75. doi: 10.1016/j.spinee.2014.05.019. Epub 2014 May 27.

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

Author information

  • 1University of Ottawa Spine Program, The Ottawa Hospital, 1053 Carling Ave., Ottawa, Ontario, Canada, K1Y 4E9. Electronic address: suzan.chen@gmail.com.
  • 2Department of Chronic Disease Epidemiology, Yale School of Public Health, 60 College St., New Haven, CT, USA, 06510.
  • 3University 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.
  • 4University 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.
  • 5University 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.

Copyright © 2014 Elsevier Inc. All rights reserved.

KEYWORDS:

Adolescent idiopathic scoliosis; Etiology; Genetic association study; LBX1; Ladybird homeobox 1; Single nucleotide polymorphism; rs11190870

[PubMed - indexed for MEDLINE]
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