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Cited by 6Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

Genetic and expression analysis of COPI genes and Alzheimer’s disease susceptibility

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Yang, Yu, Wang, Xu, Ju, Weina, Sun, Li, Zhang, Haining·2019·Frontiers in Genetics
DOI 10.3389/fgene.2019.00866PMC PMC6761859
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Abstract

Alzheimer’s disease (AD) is the most common neurodegenerative disease in the elderly and the leading cause of dementia in humans. Evidence shows that cellular trafficking and recycling machineries are associated with AD risk. A recent study found that the coat protein complex I (COPI)-dependent trafficking in vivo could significantly reduce amyloid plaques in the cortex and hippocampus of neurological in the AD mouse models, and identified 12 SNPs in COPI genes to be significantly associated with increased AD risk using 6,795 samples. Here, we used a large-scale GWAS dataset to investigate the potential association between the COPI genes and AD susceptibility by both SNP and gene-based tests. The results showed that only rs9898218 was associated with AD risk with P = 0.017. We further conducted an expression quantitative trait loci (eQTLs) analysis, and found that rs9898218 G allele was associated with increased COPZ2 expression in cerebellar cortex with P = 0.0184. Importantly, the eQTLs analysis in whole blood further indicated that 11 of these 12 genetic variants could significantly regulate the expression of COPI genes. Hence, these findings may contribute to understand the association between COPI genes and AD susceptibility.

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  • COPA is an AD-related gene that can reduce amyloid plaques in the cortex and hippocampus of AD mouse models.

    “Included were AD-related gene COPA, a gene that can reduce amyloid plaques in the cortex and hippocampus of the AD mouse models (58), and SUMO1, a useful AD marker whose expression level in plasma is tightly associated with AD pathology (59).”

    From Comprehensive characterization of the transcriptional landscape in Alzheimer’s disease (AD) brains (2025) · cites this paper as [58]

    The Introduction identifies COPA among COPI genes previously associated with AD risk and reports that COPI-dependent trafficking reduced amyloid plaques in the cortex and hippocampus of AD mouse models. It does not establish that COPA specifically caused that reduction. The paper’s own gene-based test also found no significant association between COPA and AD susceptibility. Page numbers were not provided in our copy. (LLM, conf=0.86)

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Authors
Yang, Y., Wang, X., Ju, W., Sun, L., & Zhang, H.
Affiliations
First Hospital of Jilin University (CN)
Corresponding author
  • Sun, Li
  • Zhang, Haining
ORCID
Venue
Frontiers in Genetics
Publisher
Frontiers Media SA
Published
2019-09-19
Volume
10
Pages
866-866
ISSN
1664-8021 (ISSN-L)
DOI
10.3389/fgene.2019.00866
PMC
PMC6761859
OpenAlex
W2969990678
Cited by
6
References
55
Citations by year
2025: 3 · 2023: 1 · 2022: 1 · 2021: 1
FWCI
0.34
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Natural Science Foundation of China (81571231, 81500911)
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
Alzheimer's disease, genetic susceptibility, single nucleotide polymorphisms, expression quantitative trait loci, gene expression regulation, cerebellar cortex, whole blood, amyloid plaques

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