Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE Although the magnitude of the cortical choline acetyltransferase deficit is comparable to that seen in the brains of patients with Alzheimer's disease, none of our OPCA patients appeared, on last examination, to have severe global dementia of the Alzheimer type. 3477997

1987

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE Our data support the hypothesis that expression of ChoAcTase mRNA might be down-regulated in the surviving cholinergic neurons in the nbM of patients with AD, raising the possibility of functional restoration by stimulating ChoAcTase synthesis. 1409664

1992

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE Mean concentrations of SLI in OPCA were significantly reduced by 42-58% in parietal and occipital cortices and frontal cortical eye fields, but were normal in other cortical areas, including two subdivisions of the temporal cortex which show marked depletions of both SLI and ChAT in Alzheimer's disease. 8105030

1993

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE The ChAT values were significantly lower for the AD patients with 2 epsilon 4 alleles than for those with 0 epsilon 4 (ANOVA, P < 0.05). 7783963

1995

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE These results, taken in conjunction with the reduced choline acetyltransferase activity and our previously published data showing a loss of high affinity nerve growth factor binding in both the dorsal and the ventral striatum of patients with Alzheimer's disease, indicate that receptor loss and the consequent decrease in trophic support may be associated with the degeneration of cholinergic neurons during Alzheimer's disease. 9184126

1997

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE A significant negative correlation (P < 0.001) was observed in AD brains between the histopathological dementia score and ChAT activity, which was independent of the APOE genotype. 9292886

1997

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE The expression of catalytic trkB gene, encoding for the high affinity brain-derived neurotrophic factor (BDNF) and neurotrophin-4/5 (NT-4/5) receptor, was studied post mortem in the striatum and the nucleus basalis of Meynert of patients with Alzheimer's disease (AD) and control subjects, using in situ hybridization coupled with choline acetyltransferase immunohistochemistry. 9121684

1997

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE Among diseases with LB, midfrontal ChAT activity was decreased to a similar extent in patients with (LBV) and without (DLBD and PD) AD pathology. 10668703

2000

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE The deafferentation of the hippocampus results in a degeneration of cholinergic septo-hippocampal terminals accompanied by a persistent decrease of choline acetyltransferase (ChAT) and acetylcholine esterase (AChE) activities similar to the cholinergic malfunction in AD. 11337195

2001

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE Since HCNP is known to stimulate the enzymatic activity of choline acetyltransferase in neurons, its low expression in the CAI field of AD patients may explain the downregulation of cholinergic neurons seen in these patients and may thus contribute to the pathogenic processes underlying AD. 11853019

2002

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease. 12401548

2002

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE Because cognitive decline in AD correlates better with decreases in synaptophysin-immunoreactive presynaptic terminals, choline acetyltransferase (ChAT) activity, and ChAT-positive fibers than with plaque load, we compared these parameters in hAPP/apoE3 and hAPP/apoE4 mice and singly transgenic controls at 6-7, 12-15, and 19-24 months of age. 12486146

2002

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE Because of the potential importance of this finding we analyzed this SNP and another functional SNP within exon 9 (rs868749) of the CHAT gene using a German case control sample consisting of 242 patients with AD and 143 cognitively healthy controls. 12770689

2003

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE The ChAT AA is a novel genetic risk factor AD, and the SSVS is a useful approach for analyzing association with multiple candidate genes simultaneously. 15276243

2004

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE Further studies demonstrated that: 1) ChAT expression increases with insulin or IGF-I stimulation; 2) ChAT is expressed in insulin and IGF-I receptor-positive cortical neurons; and 3) ChAT co-localization in insulin or IGF-I receptor-positive neurons is reduced in AD. 16340083

2005

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE Previous studies have reported significant disease associations for both the K-variant of BChE and the coding ChAT rs3810950 polymorphism with AD. 15690550

2005

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE We therefore investigated amyloidosis-related changes in acetylcholine (ACh) and serotonin (5-HT) innervations of hippocampus and parietal cortex by quantitative choline acetyltransferase (ChAT) and 5-HT immunocytochemistry, in 6, 12/14 and 18 month-old transgenic mice carrying familial AD-linked mutations (hAPP(Sw,Ind)). 15780468

2005

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE Compared with age-matched controls, the postmortem AD neocortex showed decreased choline acetyltransferase (ChAT) and acetyl cholinesterase activities, lower muscarinic M2, and nicotinic alpha4beta2 receptor densities, as well as reduced M1 receptor coupling to G-proteins. 16473016

2006

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE Our data suggest that genetic variation in the CHAT gene may be associated with AD risk and quantitative traits related to AD. 16223550

2006

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE The gene encoding choline acetyltransferase (ChAT), a key enzyme in cholinergic function, is a candidate gene conferring risk for AD. 16480703

2006

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE After correction for multiple testing, we found one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors (P = 0.03) and accounts for 6% of the variance in response to AChE inhibitors. 16424819

2006

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE In the present study, we investigated whether the BCHE, ACHE, and CHAT genes were associated with AD and the possibility of a synergistic effect with APOE-epsilon4 in a Sardinian sample. 17503475

2007

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker BEFREE Although the number of choline acetyltransferase (ChAT)-positive neurons was unchanged, TrkA and p75(NTR) receptor-containing neurons, which co-localize with ChAT, were significantly reduced in the NB of subjects with MCI and AD compared to those with NCI. 17908035

2007

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 GeneticVariation BEFREE A functional single nucleotide polymorphism (2384 G/A) of ChAT was proposed to be associated with AD risk and age of onset. 18562794

2008

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 AlteredExpression BEFREE ChEI therapy being the treatment of choice for mild-to-moderate Alzheimer's disease (AD) patients, we determined whether genetic variations in the PON1 loci are associated with AD risk and whether they affect brain choline acetyltransferase (CHAT) activity, nicotinic receptor density, and beta-amyloid (Abeta) levels in different regions of AD and age-matched control subjects. 18322397

2008