Associação de polimorfismos nos genes CFH, LOC387715 e VEGF com a degeneração macular relacionada à idade

• Ano de defesa: 2012
• Autor(a) principal: Luciana Negrao Frota de Almeida
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Minas Gerais; UFMG
• Palavras-chave em Português: Polimorfismo Genético; Frequência do Gene; Degeneração Macular; Único Nucleotídeo; Polimorfismo de Um; Frequência do gene; Homozigoto; Polimorfismo de nucleotídeo único; DNA; Polimorfismo genético; Técnicas de genotipagem; Reação em cadeia da polimerase; Detecção de heterozigoto; Oftalmologia; Degeneração macular
• Link de acesso: http://hdl.handle.net/1843/BUOS-8TFJRE

Purpose: Investigate the association between CFH, LOC387715/ARMS2, and VEGF gene polymorphisms and age-related macular degeneration (AMD) in a Brazilian cohort. Methods: Blood samples were collected from 163 individuals with AMD recruited at Instituto da Visão, and from 140 individuals without AMD, as the controlgroup, recruited at São Geraldo Hospital/HC of the Universidade Federal de Minas Gerais and at Centro Especializado em Olhos, Brazil. Genomic DNA was isolated from whole blood for real-time polymerase chain reaction (RT-PCR) amplification and the allelic discrimination mode was used for genotyping and subsequent statistical analysis of polymorphisms. Results: Analyzing the three genes, a significantdifference was observed in genotype distribution between the AMD and the control groups. Studying CFH gene, 33.3% of the individuals in the AMD group and 10.1% in the control group were homozygous for the at-risk allele (odds ratio OR 7.8; 95% confidence interval 95% CI: 4.1-15.4). Homozygosity for LOC387715/ARMS2 wildtype allele was also higher in the AMD group (23.6%) than in the control group (7.2%) (OR 5.6; 95% CI: 2.7-11.7). Heterozygosity for these two genes was alsostatistically significant for CFH (OR 2.7; 95% CI: 1.6-4.4) and for LOC387715/ARMS2 (OR 2.1; 95% CI: 1.3-3.2). However, VEGF gene showed significant association only for homozygosity, with a prevalence of 18.1% in the AMD group and 5.8% in the control group (OR: 3.6; 95% CI 1.6-8.2). Conclusion: Our results suggest that the polymorphisms of the three genes studied are associated with AMD in this Braziliancohort.