Genetic variant rs11136000 upregulates clusterin expression and reduces Alzheimer's disease risk.

ABSTRACT: Clusterin (CLU) is an extracellular chaperone involved in reducing amyloid beta (Aβ) toxicity and aggregation. Although previous genome-wide association studies (GWAS) have reported a potential protective effect of CLU on Alzheimer's disease (AD) patients, how intron-located rs11136000 (CLU) affects AD risk by regulating CLU expression remains unknown. In this study, we integrated multiple omics data to construct the regulated pathway of rs11136000-CLU-AD. In step 1, we investigated the effects of variant rs11136000 on AD risk with different genders and diagnostic methods using GWAS summary statistics for AD from International Genomics of Alzheimer's Project (IGAP) and UK Biobank. In step 2, we assessed the regulation of rs11136000 on CLU expressio

SUBMITTER: Ma J 

PROVIDER: S-EPMC9407972 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature