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Current Understanding of Genetic Factors in Idiopathic Scoliosis

  • Carol A. Wise
  • Shiro Ikegawa
Chapter

Abstract

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affecting 2–3% of children worldwide, yet its biologic origins are poorly understood. Epidemiology studies predict that susceptibility to AIS is mostly due to genetic factors that may differ between the sexes, as girls are at significantly greater risk of progressive disease than boys. The advent of affordable yet powerful next-generation sequencing technologies, very large reference datasets, and other publicly available tools and resources is essential for solving the complex genetic architecture of AIS. A small fraction of the total genetic risk in AIS has been discovered to date, mostly by population-based genome-wide association studies (GWAS) that correlate common polymorphisms with disease. Several validated loci point to noncoding regulatory elements that may regulate early spinal development. Rare variants are also expected to contribute to disease risk and are discoverable by well-powered sequence-based approaches. The ability to scale genetic studies through emerging technologies and consortium-sponsored collaboration will be key to defining the full genetic architecture of AIS and identifying biologic networks that may be therapeutically targetable. A second important goal of AIS research is to leverage genetic and clinical information to predict individual disease risk, risk of progression, and response to treatment.

Keywords

Idiopathic scoliosis Musculoskeletal disorder Genomics GWAS WGS Epigenetics Systems biology Therapeutics 

Notes

Acknowledgments

We thank the patients, families, and other individuals who have participated in AIS genetic research studies. We also thank Sarah Lassen from the Media Department at Texas Scottish Rite Hospital for Children for helping with figures.

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Sarah M. and Charles E. Seay Center for Musculoskeletal ResearchTexas Scottish Rite Hospital for ChildrenDallasUSA
  2. 2.Departments of Orthopaedic Surgery, Pediatrics, and McDermott Center for Human Growth and DevelopmentUniversity of Texas Southwestern Medical CenterDallasUSA
  3. 3.Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesTokyoJapan

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