Introduction: Melatonin has been linked to development of AIS in previous studies. This study sought to determine, as part of a genome‐wide association study (GWAS), whether gene polymorphisms related to melatonin signaling or biosynthesis are associated with AIS.
Methods: A total of 589 AIS patients were recruited with complete medical records describing the progression of their scoliosis as well as 1533 ethnically matched controls with no history of IAS. To assure diagnostic accuracy, each AIS patient's medical records and spinal radiographs were reviewed by a spine surgeon (J.W.O.) to confirm the diagnosis of AIS; all patients were required to have a final Cobb angle of at least 40°. A total of 6 genes involved in melatonin signaling or biosynthesis were analyzed. Signaling genes include the melatonin receptors 1A and 1B and the protein kinase C delta. Biosynthesis pathway genes included: tryptophan 5‐hydroxylase 1, serotonin N‐acetyltransferase, and hydroxyindoleo‐methyltransferase. Genotypes were determined using an Affymetrix 6.0 genechip and accompanying software.
Results: A total of 33 single nucleotide polymorphisms in the 6 melatonin related genes were analyzed as part of the GWAS. No significant differences were observed
Conclusion: Despite published reports, genetic polymorphisms associated with the genes of either melatonin synthesis or signaling pathways are not predictors of AIS or curve progression in our population.
Significance: Genetic markers from melatonin related pathway genes are unlikely to be either diagnostic for AIS or prognostic for curve progression in Adolescent Idiopathic Scoliosis patients.