Abstract:
: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.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Teresa JC,Fernado C,Nancy MR,Gilberto VA,Alberto CR,Roberto RRdoi
10.1007/s11011-020-00577-4subject
Has Abstractpub_date
2020-08-01 00:00:00pages
915-922issue
6eissn
0885-7490issn
1573-7365pii
10.1007/s11011-020-00577-4journal_volume
35pub_type
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