IS (Idiopathic Scoliosis) etiology: Multifactorial genetic research continues. A systematic review 1950 to 2017

Ayesha Maqsood, David K. Frome, Romie F. Gibly, Jill E. Larson, Neeraj M. Patel, John F. Sarwark*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objective: IS (idiopathic scoliosis) is a common spinal condition occurring in otherwise completely healthy adolescents. The root cause of IS remains unclear. This systematic review will focus on an update of genetic factors and IS etiology. Though it is generally accepted that the condition is not due to a single gene effect, etiology studies continue looking for a root cause including genetic variants. Though susceptibility from multiple genetic components is plausible based on known family history data, the literature remains unclear regarding multifactorial genetic influences. The objective of this study was to critically evaluate the evidence behind genetic causes (not single gene) of IS through a systematic review and strength-of-study analysis of existing genetic and genome-wide association studies (GWAS). We used the protocol of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Methods: PubMed was searched for the terms IS, scoliotic, spinal curve, genetic, gene, etiology, polymorphisms. Articles were assessed for risk-of-bias. Level-of-evidence grading was completed via Oxford Centre for Evidence-Based Medicine criteria. The assessment scores factor strength of a study in determining a positive or negative association to a gene etiology. Results: After screening of 36 eligible papers, 8 relevant studies met inclusion criteria at this time, 3 were in favor of a genetic factor for IS, whereas 5 studies were against it. Conclusion: Based on the literature analyzed, there is moderate evidence with a low risk-of-bias that does not clarify a genetic cause of IS. The 2 studies in favor of a genetic etiology were completed in homogeneous populations, limiting their generalizability. Relying on a genetic etiology alone for IS may over simplify its multifactorial nature and limit appreciation of other influences.

Original languageEnglish (US)
Pages (from-to)421-426
Number of pages6
JournalJournal of Orthopaedics
StatePublished - Sep 1 2020


  • Etiology
  • Genetics
  • Idiopathic scoliosis
  • Multifactorial
  • Pediatrics
  • Spine

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine


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