Jornal da doença de Alzheimer e parkinsonismo

Abstrato

Frequency of APOE, ACE, MTHFR an CCR5 Polymorphisms in Patients with Mild Cognitive Impairment in Costa Rican Population

Norbel Román, Carolina Boza, Leonardo Calvo and Andrés Flores

Background: This is a descriptive cross-sectional epidemiological study describing the prevalence of polymorphisms within the Apolipoprotein E (ApoE), Methylenetetrahydrofolate reductase (MTHFR), Angiotensin converting enzyme (ACE), and Chemokine receptor 5 (CCR5) genes in patients with mild-cognitive impairment (MCI). Methods: The study analyzed 84 blood samples from patients diagnosed with MCI at the Memory and Aging Clinic at the Hospital San Juan de Dios in Costa Rica. The authors performed genetic analysis to determine and compare the genotypic and allelic frequencies in the MCI patients versus those reported for the Costa Rican population. Results: Genotypic and allelic frequencies obtained were compared to reports in Costa Rican population, and a gender-based analysis. There was significant difference in the APOE and MTHFR polymorphism (p=0.007446 and p=0.003329, respectively). Discussion: The study found a statistical difference in prevalence of the ApoE (ε2, ε3, ε4 alleles) and MTHFR (C677T) polymorphisms in the MCI patients. The study lacks a cohort of age-matched control subjects that do not have MCI. However, this study is very relevant to our understanding the role played by these genes in the etiopathogenesis of MCI.