1. Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population
- Author
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Fernando Ferreira Costa, Priscila Hae Hyun Rim, Sueli Matilde da Silva Costa, Marina Gonçalves Monteiro Viturino, Flavio Mac Cord Medina, Alicia Buffoni Roque, Flávia Fialho Bajano, Mônica Barbosa de Melo, Jamil Miguel Neto, Gessica Fernandes da Silva Borges, Galina Ananina, and José Paulo Cabral de Vasconcellos
- Subjects
0301 basic medicine ,Apolipoprotein E ,business.industry ,Physiology ,Macular degeneration ,medicine.disease ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Polymorphism (computer science) ,Age related ,030221 ophthalmology & optometry ,medicine ,Brazilian population ,Genetic risk ,business - 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 Bonferroni-adjusted P-value, although there was a suggestive protection for the E3/E4 genotype (OR = 0.626; P-value = 0.037) and E4 carriers (OR = 0.6515; P-value = 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 = 0.3665, P-value = 0.491 × 10−3 and OR = 0.4031, P-value = 0.814 × 10−3, respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR = 0.2529, P-value = 0.659 × 10−4 and OR = 0.2692, P-value = 0.631 × 10−4, respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR = 0.4052, P-value = 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.
- Published
- 2021
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