Progress of genetic study on Alzheimer's disease
10.16352/j.issn.1001-6325.2025.11.1516
- VernacularTitle:阿尔茨海默病的遗传学研究进展
- Author:
Xin CHEN
1
;
Yun XU
;
Xiuli ZHAO
Author Information
1. 中国医学科学院北京协和医学院北京协和医院罕见病医学中心疑难重症罕见病全国重点实验室,北京 100730
- Keywords:
Alzheimer's disease;
genetics;
pathogenic gene;
pathogenic mechanism
- From:
Basic & Clinical Medicine
2025;45(11):1516-1521
- CountryChina
- Language:Chinese
-
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 tech-nologies 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 cur-rent genetic research on AD to support future research in the field.
