The Study of Immune System Spi1 Gene Polymorphism Associated With Alzheimer'S Disease

Background and aim: alzheimer's disease (ad) is the most common type of age-associated dementia that is accompanied by progressive cognitive decline and memory loss. pathologically, ad is characterized by extracellular amyloid-ß (ab) deposition in brain parenchyma as senile plaques and intracellular accumulation of neurofibrillary tangles composed of hyperphosphorylated tau. spi1 is expressed by microglia, the resident immune cells of the brain. pu.1 is a transcription factors encoded by the spi1 gene. the pu.1 transcription factor is critical in the development of myeloid cells and a major regulator of microglial gene expression. recent evidence from genome-wide association studies suggests that reductions in pu.1 contribute to a delayed onset of alzheimer's disease, possibly through limiting neuroinflammatory responses.methods: in this case-control study, 104 patients with alzheimer's disease and 104 healthy controls were evaluated. blood samples were taken from the subjects and then genomics dna was extracted. after genotypes were determined by the arms- pcr technique, the results of both groups were analyzed statistically by the medcalc.results: regarding the spi1 gene, the genotype frequencies of cc, ct and tt were 12.5%, 82.7% and 4.8%, respectively, in patients with ad, whiles in healthy controls were 3.8%, 94.3% and 1.9%, respectively. significant difference was observed in the distribution of genotypic frequency between patient and control groups (p= 0.03). also the c and t allele frequencies of mentioned gene were 0.54 and 0.46, respectively, in patients with ad, whiles in healthy controls were 0.51 and 0.49, respectively. no significant difference was observed in the distribution of allelic frequency between patient and control groups (p= 0.56).conclusion: overall, this study suggests that (c/t) (rs1057233) spi1 gene polymorphism could be associated with ad. therefore, evaluation of this polymorphism can provide appropriate information about the patient's condition.