GENETIC FACTORS INFLUENCING DEVELOPMENTOF IDIOPATHIC SCOLIOSIS. REVIEW

Abstract

Introduction. The most often observed spinal deformity that occurs during growing in otherwise healthy infants and
adolescents is idiopathic scoliosis (IS). Although hereditary factors are considered to have a significant impact, the exact
cause is yet unknown. This study supports the idea that IS is a complicated illness with a polygenic basis. It is likely that a
range of genetic risk variations, from the extremely uncommon or perhaps isolated to the extremely prevalent, can contribute
to IS.
Aim. Reviewing the literature on the investigation of potential genes and clinically relevant variants that affect IS risk was
the main goal.
Search strategy. Information based on literature data was searched in the Pubmed system using the keywords "gene
and scoliosis", articles for the period 2011-2022 were considered. The search showed about 664 scientific papers. The
studies included only full-text publications in English, which are devoted to the above issue, publications in other languages
were excluded. The next step was to filter out and leave the work, the purpose of which was genetic research ("genetic
study"). Thus, 354 publications met our criteria. Subsequently, the search was narrowed down, leaving publications related
directly to idiopathic scoliosis. When applying these criteria, the list of publications was reduced to 61, the analysis of which
is presented in this literature review. It should be noted that the list of references contains sources earlier than 2011.
References to these sources reflect various theories on the pathogenesis of this disease, put forward in the last century, the
exclusion of which will not give a complete picture for the analysis of the current situation.
Results. Based on the results of genetic studies, the literature review allowed us to summarize that IS is a complex
disease with a polygenic origin. In this article, the most prospective candidate genes are highlighted. Lack of accurate
methods for evaluating risk of advancement is a serious issue in IS, which results in numerous exams, radiographs, and
perhaps inappropriate usage of orthopedic devices. An earlier diagnosis and perhaps improved preventative and therapeutic
approaches could result from a deeper knowledge of the pathophysiology and genetics of IS.