Because of the importance of cholesterol metabolism in the physiopathogenesis of dementia, and knowing the function of ATP-binding cassette A1 transporter (ABCA1) as a cholesterol flow pump at the cellular and cerebral level, it has been noted that the ABCA1 gene may be a good candidate for disease study. In order to evaluate the relationship between ABCA1 genetic variants and the risk of Alzheimer's disease and other dementia in Mexican individuals, we examined three ABCA1 polymorphisms located in the exonic region (rs2230808, rs2066718, rs2230806) and two in the promoter region (rs1800977, rs2422493) in a group of 557 normal controls and 221 cases of dementia. It was possible to distinguish one protective haplotype: CCCCGC (OR = 0,502, 95% CI = 0,370-0,681, p < 0.001), and one risk haplotype TCCCAT (OR = 2208, 95% CI = 1609-3031, p < 0.000) for the development of dementia. The results suggest that ABCA1 plays an important role in the pathophysiological mechanisms for the development of dementia.
Keywords: ABCA1; Alzheimer’s disease; Dementia; Genetic association; Haplotypes; Polymorphisms.