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CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer’s disease in the Czech population

Overview of attention for article published in Journal of Biomedical Science, May 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#36 of 676)
  • High Attention Score compared to outputs of the same age (80th percentile)

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1 news outlet
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1 tweeter

Citations

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1 Dimensions

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13 Mendeley
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Title
CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer’s disease in the Czech population
Published in
Journal of Biomedical Science, May 2018
DOI 10.1186/s12929-018-0444-2
Pubmed ID
Authors

Alice Hálová, Jana Janoutová, Laura Ewerlingová, Vladimír Janout, Ondřej Bonczek, Tomáš Zeman, Tereza Gerguri, Vladimir J. Balcar, Omar Šerý

Abstract

Cholinergic hypothesis of Alzheimer's disease (AD) is based on the findings that a reduced and/or perturbed cholinergic activity in the central nervous system correlates with cognitive decline in patients with Alzheimer's disease. The hypothesis resulted in the development of centrally-acting agents potentiating cholinergic neurotransmission; these drugs, however, only slowed down the cognitive decline and could not prevent it. Consequently, the perturbation of the central cholinergic signalling has been accepted as a part of the Alzheimer's aetiology but not necessarily the primary cause of the disease. In the present study we have focused on the rs3810950 polymorphism of ChAT (choline acetyltransferase) gene that has not been studied in Czech population before. We carried out an association study to test for a relationship between the rs3810950 polymorphism and Alzheimer's disease in a group of 1186 persons; 759 patients with Alzheimer's disease and 427 control subjects. Furthermore, we performed molecular modelling of the terminal domain (1st-126th amino acid residue) of one of the ChAT isoforms (M) to visualise in silico whether the rs3810950 polymorphism (A120T) can change any features of the tertiary structure of the protein which would have a potential to alter its function. The AA genotype of CHAT was associated with a 1.25 times higher risk of AD (p <  0.002) thus demonstrating that the rs3810950 polymorphism can have a modest but statistically significant effect on the risk of AD in the Czech population. Furthermore, the molecular modelling indicated that the polymorphism is likely to be associated with significant variations in the tertiary structure of the protein molecule which may impact its enzyme activity. Our findings are consistent with the results of the meta-analytical studies of the relationship between rs3810950 polymorphism and AD and provide further material evidence for a direct (primary) involvement of cholinergic mechanisms in the etiopathogenesis of AD, particularly as a factor in cognitive decline and perturbed conscious awareness commonly observed in patients with AD.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 23%
Student > Doctoral Student 2 15%
Researcher 2 15%
Other 1 8%
Student > Master 1 8%
Other 1 8%
Unknown 3 23%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 31%
Pharmacology, Toxicology and Pharmaceutical Science 2 15%
Agricultural and Biological Sciences 1 8%
Neuroscience 1 8%
Chemistry 1 8%
Other 0 0%
Unknown 4 31%

Attention Score in Context

This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 May 2018.
All research outputs
#1,670,833
of 13,793,900 outputs
Outputs from Journal of Biomedical Science
#36
of 676 outputs
Outputs of similar age
#53,228
of 273,603 outputs
Outputs of similar age from Journal of Biomedical Science
#1
of 1 outputs
Altmetric has tracked 13,793,900 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 676 research outputs from this source. They receive a mean Attention Score of 4.9. This one has done particularly well, scoring higher than 94% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 273,603 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them