The study of immune system SPI۱ gene polymorphism associated with Alzheimer's Disease

سال انتشار: 1399
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 361

نسخه کامل این مقاله ارائه نشده است و در دسترس نمی باشد

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:

شناسه ملی سند علمی:

CIGS16_390

تاریخ نمایه سازی: 14 اردیبهشت 1400

چکیده مقاله:

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. SPI۱ is expressed by microglia, the resident immune cells of the brain. PU.۱ is a transcription factors encoded by the SPI۱ gene. The PU.۱ 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.۱ contribute to a delayed onset of Alzheimer's disease, possibly through limiting neuroinflammatory responses.Methods: In this case-control study, ۱۰۴ patients with Alzheimer's disease and ۱۰۴ 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 SPI۱ gene, the genotype frequencies of CC, CT and TT were ۱۲.۵%, ۸۲.۷% and ۴.۸%, respectively, in patients with AD, whiles in healthy controls were ۳.۸%, ۹۴.۳% and ۱.۹%, respectively. Significant difference was observed in the distribution of genotypic frequency between patient and control groups (P= ۰.۰۳). Also the C and T allele frequencies of mentioned gene were ۰.۵۴ and ۰.۴۶, respectively, in patients with AD, whiles in healthy controls were ۰.۵۱ and ۰.۴۹, respectively. No significant difference was observed in the distribution of allelic frequency between patient and control groups (P= ۰.۵۶).Conclusion: Overall, this study suggests that (C/T) (rs۱۰۵۷۲۳۳) SPI۱ gene polymorphism could be associated with AD. Therefore, evaluation of this polymorphism can provide appropriate information about the patient's condition.

نویسندگان

Pouya tofigh

MSc Student in Cell and Molecular Biology, Faculty of Science, University of Guilan, Rasht, Iran

farzam ajamian

Assistant Professor, Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran

alia saberi

Professor, Department of neurology, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran