Genetic association study on colony-stimulating factor 1 in Alzheimer's disease

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.