TPH1, tryptophan hydroxylase 1, 7166

N. diseases: 127; N. variants: 11
Disease: Irritable Bowel Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 GeneticVariation disease BEFREE In this pilot exploratory study, the primary aim was to determine whether genetic polymorphisms of tryptophan hydroxylase ( TPH1/TPH2), serotonin reuptake transporter ( SERT), or catechol-O-methyltransferase ( COMT) are associated with fatigue in women with IBS. 30309244 2019
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 Biomarker disease BEFREE In addition, the expression of select IBS genetic biomarkers, including tryptophan hydroxylase 1, was modulated by vitamin D. Strikingly, the direction of gene regulation elicited by vitamin D in colonic cells is "opposite" to the gene expression profile observed in IBS patients, suggesting that vitamin D may help "reverse" the pathological direction of biomarker gene expression in IBS. 29291611 2018
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 GeneticVariation disease BEFREE However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales. 23172723 2014
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 GeneticVariation disease BEFREE In this study, we assessed the only common TPH1 proximal promoter variant (-347C/A; rs7130929) and its association with bowel habit predominance in IBS. 24060757 2013
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 AlteredExpression disease BEFREE Rectal hypersensitivity (+) IBS patients (n = 12) showed lower TPH-1 mRNA level in the sigmoid compared with controls (P = 0.015). 22323131 2012
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 Biomarker disease BEFREE The TPH1 SNPs showed no association with the diagnosis of IBS. 21073637 2011
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.070 AlteredExpression disease BEFREE Transcript levels of PAR-2, TPH-1 and 5-HT(3) receptor subunits did not differ between IBS and HS. 18363639 2008