MTNR1B, melatonin receptor 1B, 4544

N. diseases: 80; N. variants: 7
Disease: Androgen-Insensitivity Syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 Biomarker disease BEFREE 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. 27840943 2016
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 Biomarker disease BEFREE These results indicate a potential modulating role of melatonin via the MT2 receptor on abnormal osteogenic and chondrogenic differentiaation in patients with AIS. 27314307 2016
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 GeneticVariation disease BEFREE Several previous studies have implicated the rs4753426 single nucleotide polymorphism in the melatonin receptor 1B (MTNR1B) gene in the etiology of AIS. 26431121 2016
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 GeneticVariation disease BEFREE Overall, no significant associations were found between MTNR1B rs4753426 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. 25898821 2015
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 Biomarker disease BEFREE 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. 25257530 2014
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 GeneticVariation disease BEFREE 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. 21691901 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 GeneticVariation disease BEFREE 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. 21308753 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 Biomarker disease BEFREE the genetic effect of promoter polymorphisms of BMP4, IL6, leptin, MMP3, and MTNR1B can be synergistic for susceptibility to AIS. 21228692 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 AlteredExpression disease BEFREE While MT1 receptors were expressed in osteoblasts of all AIS subjects, osteoblasts of only 7 of 11 AIS showed expression of MT2 receptors. 21480980 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.100 Biomarker disease BEFREE Locating in one of the chromosomal regions linked to AIS, MTNR1B gene is a potential candidate gene for AIS. 17632395 2007