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Genetic association study on colony-stimulating factor 1 in Alzheimer's disease
M Axel Wollmer1, Roger M Nitsch, Christoph Hock
1Division of Psychiatry Research, University of Zurich, Zurich, Switzerland. awollmer@bli.unizh.ch
Background:
Colony-stimulating factor 1 (CSF1) regulates the proliferation and differentiation of myelomonocytic cells. Microglial cells of CSF1-deficient mice are reduced in number and are functionally impaired. CSF1-deficient mice exhibit subtle neurodevelopmental defects, enhanced neuronal vulnerability. Moreover, it has been reported that these mice may have amyloid-plaque-like depositions in the brain at an early age. The human CSF1 gene maps to chromosome 1p21-p13, a region previously linked to Alzheimer's disease (AD). Thus, CSF1 is a functional and positional candidate gene for AD.
Objective:
We assessed if genetic variability of CSF1 may influence the risk for AD.
Methods:
We conducted a population-based case-control association study with 3 single nucleotide polymorphisms (SNPs) across the CSF1 locus in a sample of n = 185 (rs3093054, rs756325) and n = 327 (rs1058885) individuals.
Results:
None of the 3 investigated SNPs was associated with the risk for AD in our sample.
Conclusion:
These data do not support the hypothesis that genetic variability of CSF1 influences the risk for AD.
Insights
Genetic variations in the Colony-stimulating factor 1 (CSF1) gene do not appear to increase Alzheimer's disease (AD) risk. This study found no association between CSF1 single nucleotide polymorphisms and AD susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Immunology
Background:
- Colony-stimulating factor 1 (CSF1) is crucial for microglial cell development and function.
- CSF1 deficiency in mice leads to neurodevelopmental issues and increased neuronal vulnerability.
- The CSF1 gene's location on chromosome 1p21-p13, a region associated with Alzheimer's disease (AD), suggests CSF1 as a potential candidate gene for AD.
Purpose of the Study:
- To investigate whether genetic variations within the CSF1 gene influence the risk of developing Alzheimer's disease (AD).
Main Methods:
- A population-based case-control association study was performed.
- Three single nucleotide polymorphisms (SNPs) across the CSF1 locus were analyzed.
- The study included a total of 512 individuals (185 for rs3093054 and rs756325, 327 for rs1058885).
Main Results:
- No statistically significant association was found between the three investigated CSF1 SNPs and the risk of Alzheimer's disease (AD).
Conclusions:
- The findings do not support the hypothesis that genetic variability in the CSF1 gene contributes to Alzheimer's disease (AD) risk.
- Further research may be needed to explore other genetic or environmental factors in AD pathogenesis.
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