Dataset Information
Relationship Between FERMT2, CELF1, COPI, CHRNA2, and ABCA7 Genetic Polymorphisms and Alzheimer's Disease Risk in the Southern Chinese Population.
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ABSTRACT: Background
Alzheimer's disease (AD) is a multi-gene inherited disease, and apolipoprotein E (APOE) ɛ4 is a strong risk factor. Other genetic factors are important but limited.Objective
This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations.Methods
We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs.Results
Adjusted for sex and age, we found rs6572869 (FERMT2), rs11604680 (CELF1), and rs1317149 (CELF1) were associated with AD risk in the dominant (rs6572869: p = 0.022, OR = 1.55; rs11604680: p = 0.007, OR = 1.68; rs1317149: p = 0.033, OR = 1.50) and overdominant models (rs6572869: p = 0.001, OR = 1.96; rs11604680: p = 0.002, OR = 1.82; rs1317149: p = 0.003, OR = 1.80). rs9898218 (COPI) was associated with AD risk in the overdominant model (p = 0.004, OR = 1.81). Further, rs2741342 (CHRNA2) was associated with AD protection in the dominant (p = 0.002, OR = 0.5) and additive models (p = 0.002, OR = 0.64). Mutations in rs10742814 (CELF1), rs11039280 (CELF1), and rs3752242 (ABCA7) contributed to AD protection. Among them, rs10742814 (CELF1), rs3752242 (ABCA7), and rs11039280 (CELF1) were more significantly associated with AD carrying APOE ɛ4, whereas rs1317149 (CELF1) showed an opposite trend. Interestingly, rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were identified to be relevant with AD carrying APOE ɛ4. Using expression quantitative trait locus analysis, we found polymorphisms in CELF1 (rs10742814 and rs11039280), ABCA7 (rs4147912), HLA-DRB1 (rs2516049), and ADGRF4 (rs1109581) correlated with their corresponding gene expression in the brain.Conclusions
We identified four risk and four protective SNPs associated with AD in the Southern Chinese population, with different correlations between APOE ɛ4 carriers and non-carriers. rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were associated with AD carrying APOE ɛ4.
SUBMITTER: Ding Y
PROVIDER: S-EPMC10657721 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Relationship Between <i>FERMT2</i>, <i>CELF1</i>, <i>COPI</i>, <i>CHRNA2</i>, and <i>ABCA7</i> Genetic Polymorphisms and Alzheimer's Disease Risk in the Southern Chinese Population.
Journal of Alzheimer's disease reports 20231109 1
<h4>Background</h4>Alzheimer's disease (AD) is a multi-gene inherited disease, and apolipoprotein E (<i>APOE</i>) ɛ4 is a strong risk factor. Other genetic factors are important but limited.<h4>Objective</h4>This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations.<h4>Methods</h4>We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs.<h4>Results</h4>Adjusted for sex and ...[more]