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.


CONCLUSIONS
These data do not support the hypothesis that genetic variability of CSF1 influences the risk for AD.
Wollmer
M Axel
MA
Division of Psychiatry Research, University of Zurich, Zurich, Switzerland. awollmer@bli.unizh.ch
Nitsch
Roger M
RM
Hock
Christoph
C
Papassotiropoulos
Andreas
A
D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D016173:Macrophage Colony-Stimulating Factor / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors
D016173:Macrophage Colony-Stimulating Factor