Rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues.

ABSTRACT:

Background

It has been well established that the TMEM106B gene rs1990622 variant was a frontotemporal dementia (FTD) risk factor. Until recently, growing evidence highlights the role of TMEM106B in Alzheimer's disease (AD). However, it remains largely unclear about the role of rs1990622 variant in AD.

Methods

Here, we conducted comprehensive analyses including genetic association study, gene expression analysis, eQTLs analysis, and colocalization analysis. In stage 1, we conducted a genetic association analysis of rs1990622 using large-scale genome-wide association study (GWAS) datasets from International Genomics of Alzheimer's Project (21,982 AD and 41,944 cognitively normal controls) and UK Biobank (314,278 participants). In stage 2, we performed a gene expression analysi

SUBMITTER: Hu Y 

PROVIDER: S-EPMC7814705 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature