GENETIC VARIANTS RELATED TO LIPID METABOLISM AS A RISK FACTOR TO LATE-ONSET ALZHEIMER’S DISEASE
M.A.S. Pinhel, A.M. Crestani, G.F. Sousa-Amorim, M.L. Gregório, J.C. Cação, W.A. Tognola, D. Rossi Silva Souza
Background: Genetic polymorphisms in genes regulating cholesterol metabolism have been suggested to risk factor of developing Alzheimer’s disease (AD). Objective: to analyze the frequency of polymorphisms apolipoprotein E (APOE-HhaI) and adenosine triphosphate binding cassette transporter 1 (ABCA1-StyI) in patients with late-onset AD. Design: case-control study. Participants: We studied 166 subjects (≥65 years old): Study Group (SG)- 88 patients and Control Group (CG)- 88 without dementia. Setting: The polymorphisms were determined using the polymorphism chain reaction and restriction fragment length polymorphism (PCR-RFLP) methods. It was applied Fisher's exact/chi-square tests (P<0.05). Results: Genotypes with APOE*4 prevailed in SG. The genotypic combination between APOE-HhaI and ABCA1-StyI polymorphisms showed a prevalence of heterozygous genotypes of risk for AD. Conclusion: Although genetic variants for ABCA1-StyI alone does not differentiate patients and controls, the G allele in synergy with APOE*4 allele is highlighted in patients suggesting the influence of ABCA1 in the disease.
M.A.S. Pinhel ; A.M. Crestani ; G.F. Sousa-Amorim ; M.L. Gregório ; J.C. Cação ; W.A. Tognola ; D. Rossi Silva Souza (2017): Genetic variants related to lipid metabolism as a risk factor to late-onset Alzheimer’s disease. The Journal of Aging Research and Clinical Practice (JARCP). http://dx.doi.org/10.14283/jarcp.2017.3