Related Experiment Video
Updated: Jun 6, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Common variant in GAB2 is associated with late-onset Alzheimer's disease in Han Chinese
Xiao-Ling Zhong1, Jin-Tai Yu, Gui-Ying Hou
1Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Shandong Province, China.
Background:
GRB-associated binding protein 2 (GAB2) may function as a risk factor in the pathogenesis of Alzheimer disease (AD). A recent large genome-wide association study (GWAS) has identified a significant association of rs10793294 polymorphism within the GAB2 gene with AD in Caucasians. While there are no studies on the association of rs10793294 polymorphism with AD risk in the Chinese population.
Methods:
The study investigated 358 sporadic late-onset AD (LOAD) and 366 healthy controls matched for sex and age in a Han Chinese population. The rs10793294 polymorphism within the GAB2 gene was genotyped using MALDI-TOF mass spectrometry.
Results:
The C allele of the rs10793294 polymorphism within GAB2 was significantly associated with an increased risk of LOAD (OR=1.33, 95% CI=1.04-1.72, P=0.029). Significance was observed in APOEε4 carriers (genotype P=0.039, allele P=0.016). While in APOE ε4 non-carriers, significant differences were observed in alleles (P=0.039) but not in genotypes (P=0.304). Logistic regression revealed that rs10793294 polymorphism was still strongly associated with LOAD in dominant model (OR=2.58, 95% CI=1.22-5.45, P=0.013) and additive model (OR=1.38, 95% CI=1.05-1.80, P=0.020) after adjusting for age, gender, and the APOE ε4 status.
Conclusions:
Our findings implicate GAB2 as a susceptibility gene for LOAD in Han Chinese.
More Related Videos
Related Concept Videos
Alzheimer Disease ll: Pathophysiology
Alzheimer Disease l: Introduction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Alzheimer's Disease: Overview
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Huntington Disease l: Introduction
Single Nucleotide Polymorphisms-SNPs

