Author(s):
Viturino, Marina Gonçalves Monteiro, 1990- ; Miguel Neto, Jamil, 1988- ; Bajano, Flávia Fialho ; Silva-Costa, Sueli Matilde da, 1962- ; Silva, Alicia Buffoni Roque da, 1985- ; Borges, Géssica Fernandes da Silva, 1987- ; Ananina, Galina, 1961- ; Rim, Priscila Hae Hyun, 1960- ; Costa, Fernando Ferreira, 1950- ; Vasconcellos, José Paulo Cabral de, 1963- ; Melo, Mônica Barbosa de, 1968-
Date: 2021
Persistent ID: https://hdl.handle.net/20.500.12733/2768
Origin: Oasisbr
Subject(s): Apolipoproteínas E; Degeneração macular; Patogenia; Polimorfismo (Genética); Apolipoprotein E; Macular degeneration; Pathogenesis; Lipid transport pathway; Genetic risk; Genetic polymorphisms; Artigo original
Description
Agradecimentos: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was supported by the Fund for Support to Teaching, Research and Outreach Activities (FAEPEX) grants 1525/15 and 251/18 and by S~ao Paulo Research Foundation (FAPESP) grant 2010/18353–9
Abstract: This study aimed to evaluate the role of APOE polymorphisms (rs429358 and rs7412) in the risk of age-related macular degeneration in a sample of the Southeastern Brazilian population. Seven hundred and five unrelated individuals were analyzed, 334 with age-related macular degeneration (case group), and 371 without the disease (control group). In the case group, patients were further stratified according to disease phenotypes, divided into dry and wet age-related macular degeneration, and non-advanced and advanced age-related macular degeneration. APOE polymorphisms (rs429358 and rs7412) were evaluated through polymerase chain reaction and direct sequencing. In the comparison of cases vs. controls, none of the associations reached statistical significance, considering the Bonferroniadjusted P-value, although there was a suggestive protection for the E3/E4 genotype (OR ¼ 0.626; P-value ¼ 0.037) and E4 carriers (OR ¼ 0.6515; P-value ¼ 0.047). Statistically significant protection for both the E3/E4 genotype and E4 carriers was observed in the comparisons: advanced age-related macular degeneration vs. controls (OR ¼ 0.3665, P-value ¼ 0.491 103 and OR ¼ 0.4031, P-value ¼ 0.814 103 , respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR ¼ 0.2529, P-value ¼ 0.659 104 and OR ¼ 0.2692, P-value ¼ 0.631 104 , respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR ¼ 0.4052, P-value ¼ 0.001). None of the comparisons demonstrated any significant association for E2 genotypes or E2 carriers in age-related macular degeneration risk in this study. Findings suggest a protective role of the E4 haplotype in the APOE gene in the risk for advanced and wet forms of age-related macular degeneration, in a sample of the Brazilian population. To our knowledge, this is the first Brazilian study to show the association between APOE polymorphisms and age-related macular degeneration
FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO (FAPESP)
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