Proteasome modulator 9 (PSMD9) gene rs14259 polymorphism in Alzheimer’s disease

[摘要] IM: Alzheimer’s disease (AD) is a progressive and fatal neurodegenerative disorder resulting in degeneration of certain neuronal structures in certain brain regions and severe neuronal loss, characterized by a pathological accumulation of senile amyloid plaques (SP) and neurofibrillary tangles (NFT) within the brain . Alzheimer’s disease has been associated with Type 2 diabetes mellitus (T2DM) in recent years. We designed our study on the relationship between AD and T2DM. Genome screening studies in different populations had linked the chromosome 12q24 region to type 2 diabetes. Within this region, there is the PSMD9 gene encoding a transcriptional coactivator of insulin production. METHOD: The effect of PSMD9 gene E197G (rs14259) polymorphism on AD was investigated in29 Alzheimer’s patients and 25 healthy controls, who were included in the study. RESULTS: In our study, it was determined that the variant of PSMD9 gene E197G (rs14259) did not cause genetic risk factor for Alzheimer’s disease in Turkish population. CONCLUSIONS: Our study was the first to investigate the relationship between PSMD9 gene and Alzheimer’s disease. A larger sample group is needed to investigate the contribution of the PSMD9 gene to Alzheimer’s disease in further studies (Tab. 5, Ref. 8).

[学科分类] 医学（综合）

[关键词] PSMD9;Alzheimer’s disease;rs14259