Association between ARNTL (BMAL1) rs2278749 polymorphism T >C and susceptibility to Alzheimer disease in a Chinese population
Open accessAbstract
In the present study, we examined whether the ARNTL (BMAL1) rs2278749 T/C polymorphism was associated with the susceptibility to Alzheimer disease (AD). This case-control study examined the genotypes of apolipoprotein E (APOE e4) and BMAL1 rs2278749 T/C using restriction fragment length polymorphism and the TaqMan assay, respectively. A total of 296 unrelated AD patients and 423 control subjects were included. Both in the entire sample and in APOE e4 non-carriers, the prevalence of T carriers in BMAL1 rs2278749 T/C in AD patients was significantly higher than that in control subjects (entire sample: χ(2) = 12.950, P < 0.0001; APOE e4 non-carriers: χ(2) = 13.094, P < 0.0001). Both in the entire sample and in APOE e4 non-carriers, the prevalence of TT genotypes 2278749 in AD patients was also significantly higher than that in control subjects (entire sample: χ(2) = 7.765, P = 0.024; APOE e4 non-carriers: χ(2) = 13.062, P < 0.0001). However, among APOE e4 carriers, the difference in the prevalence of T carriers or TT genotypes in the BMAL1 rs2278749 T/C between patients and control subjects presents was not significant (T carriers: χ(2) = 0.078, P = 0.851 or TT genotypes: χ(2) = 2.576, P = 0.325). Among APOE e4 non-carriers, T carriers in the BMAL1 rs2278749 T/C were associated with a high susceptibility to AD, but among APOE e4 carriers, the association between AD and BMAL1 rs2278749 T/C was not significant.
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SNPs in CLOCK and BMAL1, and in BMAL1 and PER1, are associated with increased risk of Alzheimer disease and Parkinson disease, respectively.
“the incidence of single-nucleotide polymorphisms (SNPs) in CLOCK and BMAL1, and in BMAL1 and PER1, are associated with increased risk of Alzheimer disease (AD) and Parkinson disease (PD), respectively251–253”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [252]
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- BMAL1 rs2278749 T >C is Associated with AD. ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18515-18522 (2015)
- Q. Chen et al. ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18515-18522 (2015)
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- Authors
- Chen, Q., Peng, X. D., Huang, C. Q., Hu, X. Y., & Zhang, X. M.
- Affiliations
- Sichuan University (CN)
- Mianyang Third People's Hospital (CN)
- ORCID
- Venue
- Genetics and Molecular Research
- Publisher
- Genetics and Molecular Research
- Published
- 2015
- Volume
- 14
- Issue
- 4
- Pages
- 18515-18522
- ISSN
- 1676-5680 (ISSN-L)
- OpenAlex
- W2439697733
- Cited by
- 37
- References
- 27
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 2 · 2023: 6 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 5 · 2018: 4 · 2017: 3 · 2016: 1
- FWCI
- 1.97
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genetics and Molecular Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Sichuan University
- 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 › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Keywords
- Alzheimer's disease, Bmal1, genetic susceptibility, APOE ε4, gene-gene interaction, clock genes, Chinese population
- MeSH terms
- Alleles, Alzheimer Disease, Apolipoproteins E, China, Female, Gene Frequency, Genotype, Humans, Male, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Genetic Association Studies, ARNTL Transcription Factors
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