关键词: 阿尔茨海默病, 遗传学, 致病基因, 致病机制

Abstract: Alzheimer's disease (AD) is a degenerative disorder of the central nervous system in which genetic factors playing a significant role in its occurrence and progression. In recent years, significant advancements have been made in AD genetics research, facilitated by the widespread application of high-throughput sequencing technologies and genome-wide association studies (GWAS). AD has a significant genetic basis: early-onset AD (EOAD) is primarily driven by mutations in the APP, PSEN1, and PSEN2 genes, leading to the accumulation of amyloid β-protein(Aβ); while the APOEε4 allele represents the major genetic risk factor for late-onset AD (LOAD). Furthermore, GWAS have identified additional risk genes, such as TREM2, which implicate pathways including neuro-inflammation. Concurrently, the epigenetic mechanisms and rare genetic variants were found to be involved in disease pathogenesis. A deeper understanding of the complex mechanisms underlying AD may support the development of related therapeutic strategies. Therefore, this review provides an comprehensive overview of current genetic research on AD to support future research in the field.

Key words: Alzheimer's disease, genetics, pathogenic gene, pathogenic mechanism