OXT, oxytocin/neurophysin I prepropeptide, 5020

N. diseases: 135; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 GeneticVariation disease BEFREE DNA methylation in the same region of the OXT promoter as found in the brain was found to be associated with subsequent conversion to AD dementia in the blood of elderly, non-demented individuals (+ 3.43% 5mC, p<sub>Šidák</sub> = 7.14E-04). 31775875 2019
CUI: C0149654
Disease: Conduct Disorder
Conduct Disorder 		0.010 GeneticVariation disease BEFREE The entire coding sequence of the human OXT and OXTR genes were sequenced to identify mutations and single nucleotide polymorphisms (SNPs) in 151 children with ADHD (ADHD-combined, n = 51; inattentive subtype, n = 50; ADHD-C plus conduct disorder [CD], n = 50; 11-18 years) and 100 healthy controls. 28478728 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 Biomarker disease BEFREE COA-Cl (2-Cl-C.OXT-A) can promote coronary collateral development following acute myocardial infarction in mice. 30796271 2019
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 Biomarker disease BEFREE The implication of genome-wide significant differential methylation of OXT, encoding oxytocin, in two independent cohorts indicates it is a promising target for future studies on early biomarkers and novel therapeutic strategies in AD. 31775875 2019
CUI: C0497327
Disease: Dementia
Dementia 		0.010 GeneticVariation disease BEFREE DNA methylation in the same region of the OXT promoter as found in the brain was found to be associated with subsequent conversion to AD dementia in the blood of elderly, non-demented individuals (+ 3.43% 5mC, p<sub>Šidák</sub> = 7.14E-04). 31775875 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE OXT significantly increased peroxisomal function and antioxidant system defense capability, therefore illustrates that OXT might be an alternate treatment approach for the neurodegenerative diseases like HD. 31089364 2019
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		0.010 GeneticVariation disease BEFREE Results indicated that the OXT-Neurophysin I rs2770378 was related to extraversion, agreeableness, and neuroticism. 29501452 2019
CUI: C0003123
Disease: Anorexia
Anorexia 		0.010 Biomarker disease BEFREE The cisplatin-induced anorexia was abolished by OXT receptor antagonist (OXTR-A) pretreatment. 28616820 2018
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		0.010 GeneticVariation disease BEFREE This study investigated the interactions between parenting style and polymorphic variations in the OXT gene in association with social anxiety symptoms in a community sample of adolescents (n = 1,359). 28606214 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE A further potential androgen-responsive element in the human OXT gene promotor was revealed by electrophoretic mobility shift assays and co-transfections in neuroblastoma cells. 28447621 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE A further potential androgen-responsive element in the human OXT gene promotor was revealed by electrophoretic mobility shift assays and co-transfections in neuroblastoma cells. 28447621 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE A further potential androgen-responsive element in the human OXT gene promotor was revealed by electrophoretic mobility shift assays and co-transfections in neuroblastoma cells. 28447621 2017
CUI: C0233523
Disease: Antisocial behavior
Antisocial behavior 		0.010 AlteredExpression phenotype BEFREE We here investigated whether single-nucleotide polymorphisms (SNPs) in the OXT receptor gene (OXTR) are associated with the expression of antisocial behavior. 26390829 2016
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 GeneticVariation phenotype BEFREE A moderated mediation model showed that higher levels of depression mediated the inverse relation of high levels of early life adversity to breastfeeding duration, but only in women possessing the CC genotype [effect a' = -3.3401, 95% confidence interval (CI) = -7.9466 to -0.0015] of the OXT SNP and not in women with the AA/AC genotype (a' = -1.2942, ns). 23941164 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Phosphosulindac (OXT-328) selectively targets breast cancer stem cells in vitro and in human breast cancer xenografts. 22653497 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Phosphosulindac (OXT-328) selectively targets breast cancer stem cells in vitro and in human breast cancer xenografts. 22653497 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE The results indicate that AVP and OXT gene expression in the PVN and SON is unchanged in depressed AD patients compared to nondepressed AD patients. 19500216 2009
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 GeneticVariation disease BEFREE Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously evaluated patients with Irritable Bowel Syndrome (IBS), 408 homozygous subjects referred for lactase (LCT-13910 C>T, rs4988235) genotyping, and 299 asymptomatic blood donors were compared. 19943975 2009
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.010 GeneticVariation phenotype BEFREE When direct comparing, the A/G genotype was less common in the OXT promoter region in controls (p = 0.09) and in subjects with lactase persistence (p = 0.03) compared to subjects with lactase non-persistence. 19943975 2009
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 Biomarker disease LHGDN Opposite effects of oxytocin on proliferation of osteosarcoma cell lines. 18384894 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 AlteredExpression disease BEFREE However, it remains unknown whether there are alterations in OXT receptor (OXTR) levels in the ASD brain. 30514927 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 GeneticVariation disease BEFREE In this review, we summarize the current knowledge regarding associations between ASD and single-nucleotide variants of the human OXT-AVP pathway genes OXT, AVP, AVP receptor 1a (AVPR1a), OXT receptor (OXTR), the oxytocinase/vasopressinase (LNPEP), and ADP-ribosyl cyclase (CD38). 28283809 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 GeneticVariation disease BEFREE Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. 26788924 2016
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		0.200 Biomarker phenotype RGD Oxytocin exerts protective effects on in vitro myocardial injury induced by ischemia and reperfusion. 19234577 2009
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		0.200 Biomarker disease RGD Oxytocin alleviates hepatic ischemia-reperfusion injury in rats. 18403049 2008