Genetic aspects of idiopathic scoliosis – literature review

Results 558 abstracts were identified, 51 full texts were obtained and 18 were analyzed. The genes polymorphisms with the evidence of association to occurrence or progression of IS were identified. Both the papers confirming or denying genetic background of IS were found. The genes presenting polymorphisms susceptible to be related to IS were as follows: estrogen receptors (ER), melatonin receptors (MTNR), matrilin (MATNI), chromodomain helicase DNA-binding protein (CHD7), interleukin-6 (IL-6), metalloproteinases (MMP-3), g1-syntrophin (SNTG1), aggrecan, tryptophan hydroxylase 1 (TPH1), arylalkylamine N-acetyltransferase (AANAT), growth hormone receptor (GHR), collagen and elastic fibers genes. Up to now seven of the above mentioned could be excluded while others are subject of further investigation. Conclusion There is still insufficient data about the genetic origin and development of IS. The amount and quality of the existing publications increases, suggesting possible discovery of genetic background and understanding of molecular course of IS.