The asymmetric expression of several molecules involved in the melatonin signaling pathway, including melatonin receptors 1A/1B (MTNR1A/MTNR1B), estrogen receptor 2 (ESR2) and calmodulin (CALM1), has previously been suggested to be associated with AIS.
These results indicate a potential modulating role of melatonin via the MT2 receptor on abnormal osteogenic and chondrogenic differentiaation in patients with AIS.
Several previous studies have implicated the rs4753426 single nucleotide polymorphism in the melatonin receptor 1B (MTNR1B) gene in the etiology of AIS.
Overall, no significant associations were found between MTNR1Brs4753426 polymorphism and AIS risk (C vs. T: OR = 1.11, 95 % CI 0.94-1.30, P = 0.21; CC vs. TT: OR = 1.15, 95 % CI 0.97-1.36, P = 0.12; CT vs. TT: OR = 1.14, 95 % CI 0.97-1.35, P = 0.10; CC/CT vs. TT: OR = 1.14, 95 % CI 0.98-1.33, P = 0.09; CC vs.
Although the MT2 receptor was identified in GPCs from both AIS and controls, its mRNA expression was significantly lower in AIS patients than the controls.
Single nucleotide polymorphism (SNP) sites in the genes for estrogen receptor α (ERα), estrogen receptor β (ERβ), tryptophan hydroxylase 1 (TPH-1), melatonin receptor 1B (MTNR1B) and matrillin-1 (MATN1), which were previously identified to be predisposition genes for AIS, were selected for genotyping by the PCR-RFLP method.
Several genetic associations between AIS and single nucleotide polymorphisms (SNPs) have been reported; common SNPs in the genes for matrilin 1 (MATN1), melatonin receptor 1B (MTNR1B), tryptophan hydroxylase 1 (TPH1), and insulin-like growth factor 1 (IGF1) are reported to be associated with AIS in Chinese.