A study of the low-frequency CLU gene variant affecting the susceptibility to late-onset Alzheimer's disease and mild cognitive impairment

VernacularTitle:CLU基因低频变异与晚发型阿尔茨海默病和轻度认知功能障碍遗传易感性研究
Author: Xiaoquan ZHU ¹ ; Xiaoling LI ; Youcai HU ; Yuan LYU ; Yanli HE ; Ze YANG
Author Information

1. 北京医院
Keywords: Alzheimer disease; Cognition disorders; CLU gene; Variation
From: Chinese Journal of Geriatrics 2019;38(6):627-630
CountryChina
Language:Chinese
Abstract: Objective To explore the potential genetic variants related with late-onset Alzheimer's disease(LOAD),and to broaden the AD genetic susceptibility factor profile.Methods We targetedly sequenced four lipids metabolism related genes including apolipoprotein E(APOE),sortilin-related receptor gene (SORL 1),apolipoprotein C-I (APOC1) and clusterin (CLU),validated these candidate variants in patients with LOAD and mild cognitive impairment (MCI)and the controls with normal cognitive function,and made a bioinformatic analysis.Results The mutation in the allele of CLU rs117389184,a low-frequency single nucleotide polymorphism,would increase the risk of LOAD and MCI[OR (95 ％ CI):3.56 (1.08-4.84),P =0.026;OR (95 ％ CI):3.06 (0.98-4.03),P =0.026],suggesting CLU rs117389184 gene variant was associated with cognitive impairment.This variation could affect CLU gene expression by interfering with the binding of transcription factors.Conclusions CLU rs117389184 is a new genetic risk variant for LOAD and MCI.