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Review
. 2016 Nov 28:11:45.
doi: 10.1186/s13013-016-0105-8. eCollection 2016.

Genetics and pathogenesis of idiopathic scoliosis

A Grauers  1 , E Einarsdottir  2 , P Gerdhem  3
Affiliations
Review

Genetics and pathogenesis of idiopathic scoliosis

A Grauers et al. Scoliosis Spinal Disord. .

Abstract

Idiopathic scoliosis (IS), the most common spinal deformity, affects otherwise healthy children and adolescents during growth. The aetiology is still unknown, although genetic factors are believed to be important. The present review corroborates the understanding of IS as a complex disease with a polygenic background. Presumably IS can be due to a spectrum of genetic risk variants, ranging from very rare or even private to very common. The most promising candidate genes are highlighted.

Keywords: Genetics; Heredity; Idiopathic scoliosis; Pathogenesis.

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Figures

Fig. 1
Fig. 1
Gene anatomy. Intergenic regions: areas between genes. Transcription start site: starting point for the RNA transcription (from DNA template). Translation start site: starting point for protein translation (from mRNA template). Exons: retained in mRNA, basis for protein translation. Promoter region: regulatory region important for initiation of transcription. 5′UTR and 3′UTR: non-coding start and endpoint of mRNA. Splice site: sequence that guides splicing of exonic RNA. Introns: sequence removed during splicing. Artwork: Elísabet Einarsdóttir
Fig. 2
Fig. 2
Example of a single nucleotide variation (SNV). Upper part: DNA sequence illustrating two possible alleles at a specific point in the genome. This type of variation is called single-nucleotide variation (SNV). Lower part: the resulting three possible genotypes. Artwork: Elísabet Einarsdóttir
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