ArticleHuman genetics2003
Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 4 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk.Medical science monitor : international medical journal of experimental and clinical research · 2016Pooled it
- Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis.BioMed research international · 2016Pooled it
- Pooled it
- Meta-analyses of 8 polymorphisms associated with the risk of the Alzheimer's disease.PloS one · 2013Pooled it
- Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia.Molecular psychiatry · 2006Trial
- Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.PloS one · 2022Article
- The Effect of Choline Acetyltransferase Genotype on Donepezil Treatment Response in Patients with Alzheimer's Disease.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2015Article
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.Human mutation · 2012Article
- Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.Genes, brain, and behavior · 2011Article
- Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.Neurobiology of aging · 2006Article
- The genetics of Alzheimer's disease.American journal of Alzheimer's disease and other dementiasReview
Corrections and comments
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Authors and funding
23 authors at 5 institutions in 2 countries.
Funding
Abstract
There is substantial evidence for a susceptibility gene for late-onset Alzheimer's disease (AD) on chromosome 10. One of the characteristic features of AD is the degeneration and dysfunction of the cholinergic system. The genes encoding choline acetyltransferase (ChAT) and its vesicular transporter (VAChT), CHAT and SLC18A3 respectively, map to the linked region of chromosome 10 and are therefore both positional and obvious functional candidate genes for late-onset AD. We have screened both genes for sequence variants and investigated each for association with late-onset AD in up to 500 late-onset AD cases and 500 control DNAs collected in the UK. We detected a total of 17 sequence variants. Of these, 14 were in CHAT, comprising three non-synonymous variants (D7N in the S exon, A120T in exon 5 and L243F in exon 8), one synonymous change (H547H), nine single-nucleotide polymorphisms in intronic, untranslated or promoter regions, and a variable number of tandem repeats in intron 7. Three non-coding SNPs were detected in SLC18A3. None demonstrated any reproducible association with late-onset AD in our samples. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.