阿尔茨海默病遗传学研究进展

The progress in the study of Alzheimer's disease genetics

阿尔茨海默病(Alzheimer's disease,AD),以65岁为界可分为早发性(early-onset Alzheimer's disease,EOAD)和晚发性(late-onset Alzheimer's disease,LOAD)两种,其中LOAD占90%以上。两者均是遗传因素和环境因素相互作用的结果,其中LOAD的遗传度高达80%。随着人类基因组计划的完成,全基因组关联研究和二代基因测序技术的进展,一系列基因(BIN1、CLU、ABCA7、CR1、PICALM、MS4A4A/MS4A6A/MS4A4E、EPHA1、CD2AP、CD33)被发现与LOAD的易感性相关。本文综述了与LOAD发病相关的易感基因研究进展。

Alzheimer’s disease （ AD） could be divided into early-onset Alzheimer ’s disease （ EOAD） and late-onset Alzheimer ’s disease （ LOAD） in terms of the onset age , and more than 90%is LOAD.Both EOAD and LOAD are the result of the interaction between genetic factors and environmental factors , and heritability of LOAD is up to 80%.Quite numbers of research have revealed some new genes implicated in LOAD risk（BIN1, CLU, ABCA7, CR1, PICALM, MS4A4A/MS4A6A/MS4A4E, EPHA1, CD2AP, and CD33）, made possible by human genome project（HGP）, genome-wide association study （GWAS） and next generation sequen-cing （ NGS） .Here we review the risk genes for LOAD .