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Updated: Oct 31, 2025

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies
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What causes AIS? Ask the genome!

C A Wise1,2,3

  • 1Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.

Studies in Health Technology and Informatics
|June 30, 2021
PubMed
Summary
This summary is machine-generated.

Adolescent idiopathic scoliosis (AIS), a spinal deformity, is linked to genetic complexity and cartilage development issues. Research suggests structural integrity and hormonal factors play a role in AIS susceptibility.

Keywords:
Scoliosisadolescentcartilagegeneticsintervertebral disc

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Area of Science:

  • Orthopedics
  • Genetics
  • Developmental Biology

Background:

  • Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity.
  • AIS presents as isolated symptom in healthy adolescents, with girls at higher risk.
  • Pathogenic understanding of AIS is limited by genetic complexity and lack of animal models.

Purpose of the Study:

  • To update progress in understanding the genetic, biochemical, and cellular determinants of AIS.
  • To propose a molecular model for AIS susceptibility.
  • To highlight recent breakthroughs from GWAS and NGS studies.

Main Methods:

  • Genome-wide association studies (GWAS) and next-generation sequencing (NGS) of human AIS cohorts.
  • Post-hoc gene set and pathway-level analyses of genetic datasets.
  • Modeling in vertebrate systems to study protein deficiencies.

Main Results:

  • Genetic studies implicate cartilage biogenesis and intervertebral disc (IVD) development in AIS susceptibility.
  • Rare deficiencies in cartilaginous extracellular matrix (ECM) proteins contribute to AIS.
  • AIS exhibits significant sexual dimorphism, with higher progression risk in females.

Conclusions:

  • Deficiencies in spinal cartilage structural integrity and homeostasis are key factors in AIS susceptibility.
  • A molecular model suggests interaction between hormonal environment and genetic susceptibility increases AIS risk.
  • Further research into genetic and environmental factors is crucial for understanding and treating AIS.