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    CHAT choline O-acetyltransferase [ Homo sapiens (human) ]

    Gene ID: 1103, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.

    Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.
    Joda M, Waters KA, Machaalani R.

    11/27/2023
    Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis.

    Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis.
    Wang S, Zhang G, Lu H., Free PMC Article

    02/11/2023
    Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.

    Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.
    Kimura N, Shiga K, Kaneko KI, Oki Y, Sugisawa C, Saito J, Tawara S, Akahori H, Sogabe S, Yamashita T, Takekoshi K, Naruse M, Katabami T.

    03/26/2022
    Coronary vasodilation mediated by T cells expressing choline acetyltransferase.

    Coronary vasodilation mediated by T cells expressing choline acetyltransferase.
    Chester AH, McCormack A, Miller EJ, Ahmed MN, Yacoub MH.

    10/30/2021
    The SNP rs3753841 in COL11A1, rs1258267 in CHAT and rs736893 in GLIS3 are associated with PACG in northern Chinese people, and the association of genetic markers manifests a tendency of ethnic diversity. Larger population-based studies are warranted to reveal additional primary angle-closure glaucoma loci and ethnic aspects of primary angle-closure glaucoma.

    Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China.
    Zhuang W, Wang S, Hao J, Xu M, Chi H, Piao S, Ma J, Zhang X, Ha S., Free PMC Article

    04/20/2019
    CHAT SNP rs12246528 had the strongest association with parahippocampal structure, with the A allele being linked to smaller volume, surface area, and thickness. SNP rs1917814 had the strongest association with hippocampal volume, with the T allele being linked to larger hippocampal volume. CHAT rs3729496 had the strongest association with memory span, with the T allele being associated with a greater memory span.

    The Choline Acetyltransferase (CHAT) Gene is Associated with Parahippocampal and Hippocampal Structure and Short-term Memory Span.
    Zhu B, Chen C, Moyzis RK, Dong Q, Lin C.

    02/23/2019
    CHAT may contribute to Tourette syndrome susceptibility in the Han Chinese population.

    Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.
    Yang X, Liu W, Yi M, Zhang R, Xu Y, Huang Z, Liu S, Li T.

    01/19/2019
    the AA genotype of CHAT was associated with a 1.25 times higher risk of Alzheimer's disease (AD) thus demonstrating that the rs3810950 polymorphism can have a modest but statistically significant effect on the risk of AD in the Czech population

    CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.
    Hálová A, Janoutová J, Ewerlingová L, Janout V, Bonczek O, Zeman T, Gerguri T, Balcar VJ, Šerý O., Free PMC Article

    10/27/2018
    Compared with the control group, the densitometric quantification and mean density of GPR43 and ChAT proteins, and expression of GPR43 and CHAT genes, were significantly decreased in the patients with mixed refractory constipation.

    Function and clinical implications of short-chain fatty acids in patients with mixed refractory constipation.
    Shi Y, Chen Q, Huang Y, Ni L, Liu J, Jiang J, Li N.

    07/22/2017
    meta-analysis suggested that rs1880670G/A, and rs2177369 G/A polymorphisms were not risk factors for Alzheimer's Disease. However, rs3810950G/A, or rs868750G/A genetic polymorphism was a genetic risk factor for the development of Alzheimer's Disease.

    Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.
    Yuan H, Xia Q, Ling K, Wang X, Wang X, Du X., Free PMC Article

    07/22/2017
    Results suggest that SATB1 is activated to bind to chromatin at S/MARs after exposure to Abeta 1-42, resulting in alternative utilization and movement of 82-kDa ChAT to these regions demonstrating that both proteins play critical roles in the response of neural cells to acute Abeta-exposure.

    82-kDa choline acetyltransferase and SATB1 localize to β-amyloid induced matrix attachment regions.
    Winick-Ng W, Caetano FA, Winick-Ng J, Morey TM, Heit B, Rylett RJ., Free PMC Article

    03/11/2017
    We conducted a meta-analysis of studies involving CHAT, TFAM, and VR22 polymorphisms and Alzheimer disease susceptibility.For CHAT, rs2177369 (G>A) in whites and rs3810950 (G>A) in Asians were found to be associated with AD susceptibility. No association was detected between rs1880676 and rs868750 and AD risk.

    Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk.
    Gao L, Zhang Y, Deng J, Yu W, Yu Y., Free PMC Article

    03/11/2017
    In conclusion, our meta-analysis indicated CHAT rs2177369 polymorphism might play a protective role in AD, while rs3810950 variant was a risk factor for AD but its single heterozygous mutations might not influence susceptibility to AD.

    Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis.
    Liu Y, Chen Q, Liu X, Dou M, Li S, Zhou J, Liu H, Wu Y, Huang Z., Free PMC Article

    02/4/2017
    Two novel CHAT gene mutations, p.Val306Leu and p.Ser704del were detected in an ethnic Kadazandusan family with congenital myasthenic syndrome.

    Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
    Tan JS, Ambang T, Ahmad-Annuar A, Rajahram GS, Wong KT, Goh KJ.

    09/10/2016
    sequence variants of CHAT were associated with human cognitive ability in not only patients with psychiatric disorders but also normal healthy individuals

    Polymorphic variation in CHAT gene modulates general cognitive ability: An association study with random student cohort.
    Liu X, Shi Y, Niu B, Shi Z, Li J, Ma Z, Wang J, Gong P, Zheng A, Zhang F, Gao X, Zhang K.

    08/13/2016
    There is a striking variability in the severity of phenotypes resulting from mutations in CHAT, which is the only gene so far known to be linked with congenital deficiency of ACh synthesis.

    Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
    Arredondo J, Lara M, Gospe SM Jr, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA., Free PMC Article

    05/14/2016
    Data show thata the expression of choline acetyltransferase (ChAT) is reduced in the postmortem alcoholic basal forebrain in comparison to moderate drinking controls.

    Adolescent, but not adult, binge ethanol exposure leads to persistent global reductions of choline acetyltransferase expressing neurons in brain.
    Vetreno RP, Broadwater M, Liu W, Spear LP, Crews FT., Free PMC Article

    01/23/2016
    This study confirmed that genetic polymorphism of CHAT has an influence on drug response in Alzheimer's disease.

    Association of the choline acetyltransferase gene with responsiveness to acetylcholinesterase inhibitors in Alzheimer's disease.
    Yoon H, Myung W, Lim SW, Kang HS, Kim S, Won HH, Carroll BJ, Kim DK.

    01/16/2016
    These studies indicate a novel relationship between cholinergic neurons and APP processing, with 82-kDa ChAT acting as a negative regulator of Abeta production

    Nuclear 82-kDa choline acetyltransferase decreases amyloidogenic APP metabolism in neurons from APP/PS1 transgenic mice.
    Albers S, Inthathirath F, Gill SK, Winick-Ng W, Jaworski E, Wong DY, Gros R, Rylett RJ.

    03/21/2015
    The results demonstrate that human NSCs over-expressing ChAT improve cognitive function and physical activity of aging mice.

    Improvement of cognitive function and physical activity of aging mice by human neural stem cells over-expressing choline acetyltransferase.
    Park D, Yang YH, Bae DK, Lee SH, Yang G, Kyung J, Kim D, Choi EK, Lee SW, Kim GH, Hong JT, Choi KC, Lee HJ, Kim SU, Kim YB.

    03/8/2014
    rs1880676 is functional and the allelic variations of this polymorphism are involved in developing nicotine dependence by altering ChAT expression.

    Determination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cells.
    Yang Z, Lin C, Wang S, Seneviratne C, Wang J, Li MD., Free PMC Article

    02/1/2014
    There was a loss of choline O-acetyltransferase in the visual cortex of dementia with Lewy bodies patients.

    Synaptic proteins and choline acetyltransferase loss in visual cortex in dementia with Lewy bodies.
    Mukaetova-Ladinska EB, Andras A, Milne J, Abdel-All Z, Borr I, Jaros E, Perry RH, Honer WG, Cleghorn A, Doherty J, McIntosh G, Perry EK, Kalaria RN, McKeith IG.

    02/23/2013
    There were CHAT mRNA reactions in the synovial lining layer in patients with rheumatoid arthritis and osteoarthritis.

    Presence of ChAT mRNA and a very marked α7nAChR immunoreaction in the synovial lining layer of the knee joint.
    Forsgren S.

    01/26/2013
    In airway epithelial cells anti-CHAT immunogold was found particularly within the apical cell membrane, cilia, submucosa, cytosol and nuclear membrane.

    Subcellular distribution of choline acetyltransferase by immunogold electron microscopy in non-neuronal cells: placenta, airways and murine embryonic stem cells.
    Wessler I, Michel-Schmidt R, Brochhausen C, Kirkpatrick CJ.

    01/26/2013
    Data from transgenic mice expressing human CHAT in brain neurons suggest that CHAT is important in maintaining memory and learning throughout life.

    Prevention of age-related memory deficit in transgenic mice by human choline acetyltransferase.
    Dong Z, Fu A.

    09/15/2012
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