Beatriz Fernández-Vega1,2,3, Montserrat García1,2, Lorena Olivares2, Lydia Álvarez2, Adrián González-Fernández2, Enol Artime2, Andrés Fernández-Vega Cueto1,2, Teresa Cobo4, Miguel Coca-Prados5, José A Vega3,6, Héctor González-Iglesias1,2. 1. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain. 2. Instituto Universitario Fernández-Vega (Fundación de Investigación Oftalmológica, Universidad de Oviedo), Oviedo, Spain. 3. Departamento de Morfología y Biología Celular, Grupo SINPOS, Universidad de Oviedo, Oviedo, Spain. 4. Departamento de Cirugía y Especialidades Médico-Quirúrgicas, Universidad de Oviedo, Oviedo, Spain. 5. Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT, USA. 6. Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago de Chile, Chile.
Abstract
PURPOSE: To elucidate the potential role of eleven single nucleotide polymorphisms (SNPs) in the most relevant lipid metabolism genes in Northern Spanish patients with age-related macular degeneration (AMD). METHODS: A case-control study of 228 unrelated native Northern Spanish patients diagnosed with AMD (73 dry and 155 wet) and 95 healthy controls was performed. DNA was isolated from peripheral blood and genotyped for the SNPs APOE rs429358 and rs7412; CTEP rs3764261; LIPC rs10468017 and rs493258; LPL rs12678919; ABCA1 rs1883025; ABCA4 rs76157638, rs3112831 and rs1800555; and SCARB1 rs5888, using TaqMan probes. An additional association study of ε2, ε3 and ε4 major isoforms of APOE gene with AMD has been carried out. RESULTS: The allele and genotype frequencies for each of the eleven sequence variants in the lipid metabolism genes did not show significant differences when comparing AMD cases and controls. Statistical analysis revealed that APOE-ε2 carrier genotypes were less frequently observed in patients with wet AMD compared to controls (5.8% versus 13.7%, respectively: p = 3.28 × 10-2 ; OR = 0.42, 95% CI: 0.19-0.95). The frequency of the allele T of rs10468017 (LIPC gene) was lower in dry AMD cases compared to controls (15.8 versus 27.9%, respectively: p = 8.4 × 10-3 OR = 0.57, 95% CI: 0.33-0.98). CONCLUSIONS: Our results suggest a protective role for APOE-ε2 allele to wet AMD in the Northern Spanish population.
PURPOSE: To elucidate the potential role of eleven single nucleotide polymorphisms (SNPs) in the most relevant lipid metabolism genes in Northern Spanish patients with age-related macular degeneration (AMD). METHODS: A case-control study of 228 unrelated native Northern Spanish patients diagnosed with AMD (73 dry and 155 wet) and 95 healthy controls was performed. DNA was isolated from peripheral blood and genotyped for the SNPs APOErs429358 and rs7412; CTEP rs3764261; LIPCrs10468017 and rs493258; LPL rs12678919; ABCA1rs1883025; ABCA4rs76157638, rs3112831 and rs1800555; and SCARB1rs5888, using TaqMan probes. An additional association study of ε2, ε3 and ε4 major isoforms of APOE gene with AMD has been carried out. RESULTS: The allele and genotype frequencies for each of the eleven sequence variants in the lipid metabolism genes did not show significant differences when comparing AMD cases and controls. Statistical analysis revealed that APOE-ε2 carrier genotypes were less frequently observed in patients with wet AMD compared to controls (5.8% versus 13.7%, respectively: p = 3.28 × 10-2 ; OR = 0.42, 95% CI: 0.19-0.95). The frequency of the allele T of rs10468017 (LIPC gene) was lower in dry AMD cases compared to controls (15.8 versus 27.9%, respectively: p = 8.4 × 10-3 OR = 0.57, 95% CI: 0.33-0.98). CONCLUSIONS: Our results suggest a protective role for APOE-ε2 allele to wet AMD in the Northern Spanish population.
Authors: Inés López-Cuenca; Elena Salobrar-García; Inés Gil-Salgado; Lidia Sánchez-Puebla; Lorena Elvira-Hurtado; José A Fernández-Albarral; Federico Ramírez-Toraño; Ana Barabash; Jaisalmer de Frutos-Lucas; Juan J Salazar; José M Ramírez; Ana I Ramírez; Rosa de Hoz Journal: J Pers Med Date: 2022-05-23
Authors: Marina Gm Viturino; Jamil M Neto; Flávia F Bajano; Sueli Ms Costa; Alicia B Roque; Gessica Fs Borges; Galina Ananina; Priscila Hh Rim; Flávio M Medina; Fernando F Costa; José Pc de Vasconcellos; Mônica B de Melo Journal: Exp Biol Med (Maywood) Date: 2021-01-19