Abstract
The effects of genomic variations and their associations with idiopathic scoliosis have been the discussion of many research trials. Previous investigations into catechol-o-methyl transferase (COMT) have identified its importance in dopamine and estrogen metabolism. While many genetic influences on idiopathic scoliosis have been observed, there has been no report of any relationship between COMT mutations and idiopathic scoliosis. The present study compared two groups of patients who received COMT genetic testing. The first group had a history of idiopathic scoliosis, while the other served as a non-scoliotic control group. The scoliosis group showed a positive COMT mutation in 33 out of 58 patients, while the control group showed 22/58 (P < 0.05). The homozygous genotype Met/Met occurred significantly more frequently in the scoliosis group. The increased incidence of COMT defects in the current scoliosis patient group warrants further study into how COMT variations may relate to the development or progression of idiopathic scoliosis.
Highlights
There has been significant interest and investigation into the genetic contributions to the development and/or progression of idiopathic scoliosis
Given its importance in dopamine and estrogen metabolism, combined with previously published studies examining these chemicals relative to scoliosis etiopathogenesis [12] [13], this study examined the rate of occurrence of catechol-o-methyl transferase (COMT) polymorphisms in a cohort of patients with idiopathic scoliosis compared to a group of non-scoliotics
Once these patient files were identified, those that fulfilled the following inclusion criteria were included in the present study: 1) Patients were diagnosed by the customary radiographic Cobb angle of >10 ̊, meeting the definition of scoliosis; 2) Patients had performed a genetic test from an online commercial genetics laboratory; 3) The patient’s results had been interpreted by the same software program that analyzed the presence of COMT variants, and 4) all patients in both groups presented for initial treatment in the calendar years 2016 and 2017
Summary
There has been significant interest and investigation into the genetic contributions to the development and/or progression of idiopathic scoliosis. Genome-wide association studies [1] [2] and systematic reviews [3] [4] [5]. Many single nucleotide polymorphisms have been previously identified, several of these have been excluded upon further investigation [6]. With many neuro-hormonal aspects of idiopathic scoliosis identified [7], it is likely that interest in possible genetic contributions to idiopathic scoliosis will continue into the forseeable future
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