Association between ABCA1 gene polymorphisms and the therapeutic response to donepezil therapy in Han Chinese patients with Alzheimer’s disease

• Published in: Brain research bulletin 2018-06, Vol.140, p.1-4
• Main Authors: Lu, Jin, Fu, Jianliang, Zhong, Yuan, Yang, Quanjun, Huang, Jinlu, Li, Jie, Huo, Yan, Zhao, Yuwu, Wan, Lili, Guo, Cheng
• Format: Article
• Language: English
• Subjects: Aged, 80 and over; Alzheimer Disease - drug therapy; Alzheimer Disease - genetics; Apolipoproteins E - genetics; Asian Continental Ancestry Group - genetics; ATP Binding Cassette Transporter 1 - genetics; China; Cholinesterase Inhibitors - therapeutic use; Donepezil - therapeutic use; Female; Humans; Male; Pharmacogenomic Variants; Polymorphism, Single Nucleotide; Treatment Outcome
• ISSN: 0361-9230; 1873-2747
• DOI: 10.1016/j.brainresbull.2018.03.014

•ABCA1 polymorphisms and the DNP efficacy are highly correlated.•AD Patients with the ABCA1 rs2230806 GG genotype responded best to DNP treatment.•The combination of ABCA1 polymorphisms and APOE E3 tended to predict efficacy of DNP. It is reported that ABCA1, which plays a key role in cholesterol transport and apolipoprotein E (APOE) metabolism in the brain, is related to Alzheimer’s disease. However, few studies have focused on the relationship between the ABCA1 gene and the therapeutic response to donepezil (DNP), which has been shown to be related to reduced sAPP production.This study evaluated the association between the ABCA1 gene polymorphism and the clinical response to donepezil therapy in Han Chinese patients with Alzheimer’s disease. We examined ABCA1 gene polymorphisms in 88 Han Chinese patients with Alzheimer’s disease who were receiving DNP therapy. The Mini-Mental State Examination was conducted before and after DNP treatment, and the ABCA1 rs 2230806 and rs 2230808, APOE E3 genotypes of each patient were identified. We found that patients with the ABCA1 rs2230806 GG genotype responded better to DNP treatment compared to those with the AA and AG genotypes (p = 0.001). Patients who were APOE E3 non-carriers and had the ABCA1 rs2230806 GG genotype tended to have a better clinical response to DNP therapy. The ABCA1 rs 2230806 polymorphism and its combination with the APOE E3 allele may provide clinically relevant information for predicting the therapeutic response to DNP therapy.