Study design: A genetic association study to investigate variation of the melatonin receptor 1A (MTNR1A) gene in adolescent idiopathic scoliosis (AIS) patients.
Objective: To determine whether the MTNR1A gene promoter polymorphism is associated with the predisposition and/or disease severity of AIS.
Summary of background data: An involvement of the dysfunction of the melatonin pathway in the etiopathogenesis of AIS has been implicated in several studies. Recently, our group has found that the promoter polymorphism of the melatonin receptor 1B (MTNR1B) gene was associated with the occurrence of AIS. Hence, it is of interest to determine whether the promoter polymorphism of the MTNR1A gene could also associated with the occurrence or curve severity of AIS.
Methods: A total of 226 AIS girls and 277 normal controls were recruited. SNP rs2119882 in the promoter region (-369 bp) of the MTNR1A gene was selected for the present study. Genotyping was performed by PCR-RFLP. Statistical analysis of genotype frequencies between case and control was performed by chi test. One-way ANOVA was used in comparison of mean maximum Cobb angles with different genotypes in case-only analysis.
Results: Genotype and allele frequencies were comparable between case and control for SNP rs2119882 (P > 0.05). The mean maximum Cobb angles of different genotypes were similar with each other for SNP rs2119882.
Conclusions: Promoter polymorphism of the MTNR1A gene was not associated with the occurrence or curve severity of AIS. The MTNR1A gene may not be involved in the etiopathogenesis of AIS.