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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.
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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.
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CHAT may contribute to Tourette syndrome susceptibility in the Han Chinese population.
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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
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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.
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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.
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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.
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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.
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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.
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Two novel CHAT gene mutations, p.Val306Leu and p.Ser704del were detected in an ethnic Kadazandusan family with congenital myasthenic syndrome.
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sequence variants of CHAT were associated with human cognitive ability in not only patients with psychiatric disorders but also normal healthy individuals
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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.
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Data show thata the expression of choline acetyltransferase (ChAT) is reduced in the postmortem alcoholic basal forebrain in comparison to moderate drinking controls.
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This study confirmed that genetic polymorphism of CHAT has an influence on drug response in Alzheimer's disease.
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These studies indicate a novel relationship between cholinergic neurons and APP processing, with 82-kDa ChAT acting as a negative regulator of Abeta production
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The results demonstrate that human NSCs over-expressing ChAT improve cognitive function and physical activity of aging mice.
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rs1880676 is functional and the allelic variations of this polymorphism are involved in developing nicotine dependence by altering ChAT expression.
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There was a loss of choline O-acetyltransferase in the visual cortex of dementia with Lewy bodies patients.
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There were CHAT mRNA reactions in the synovial lining layer in patients with rheumatoid arthritis and osteoarthritis.
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In airway epithelial cells anti-CHAT immunogold was found particularly within the apical cell membrane, cilia, submucosa, cytosol and nuclear membrane.