Abstract

Background: Mild cognitive impairment (MCI), as a neurodegenerative disease characterized by a moderate decline in one ormore cognitive functions with a preserved autonomy in daily life activities, is the early stage and a high-risk state of Alzheimer's disease (AD). The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a cell membrane transporter protein involved in cholesterol reverse transport, sterol metabolism, and high-density lipoprotein (HDL) metabolism. The aim of this studywas to investigate the relationship between polymorphism of C/T (rs4149268) in ABCA1 gene with MCI in a Chinese population.

Methods: This study involved 1,654 subjects, including 278 MCI patients and 1376 healthy subjects. Genotypes of 1,616 samples were measured using matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) technique.

Results: The analysis of rs4149268 polymorphism of ABCA1 gene showed that therewere significant differences between MCI and controls (p < 0.05). When adjusting for age, sex, marital status, education, non-alcoholic fatty liver disease (NAFLD), and alcohol drinking, results showed that rs4149268 polymorphism was significantly correlated with MCI in codominant, dominant, and log-additive models. Logistic regression analysis showed that rs4149268 T/T carrierswere 1.761 times more susceptible than C/C carriers (95% confidence interval: 1.108–2.800).

Conclusions: Rs4149268 polymorphism of ABCA1 gene was shown to be a genetic risk factor for MCI.