Estudio de los polimorfismos de riesgo en la DMAE exudativa en una población española
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2023
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20/01/2022
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Universidad Complutense de Madrid
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OBJETIVO: Identificar la asociación de los principales polimorfismos de un solo nucleótido (SNP) localizados en CFH, ARMS2, HTRA1, CFB, C2 y C3 y describir las características sociodemográficas de los pacientes con DMAE exudativa en una población española. MATERIAL Y MÉTODOS: Estudio realizado en Alcorcón (Madrid) entre enero de 2015 y junio de 2018 seleccionando casos con DMAE exudativa y controles sanos. Analizamos la presencia de enfermedades asociadas y los antecedentes familiares de DMAE. Estudiamos 12 polimorfismos de riesgo para DMAE de los genes CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739) y C3 (rs147859257, rs2230199, rs1047286).RESULTADOS: Estudiamos 383 pacientes con una edad media de 74,97 (rango 55 a 95 años), 149 hombres y 234 mujeres: 187 pacientes con DMAE y 196 pacientes controles. Observamos diferencias significativas en la distribución de genotipos entre pacientes y controles, con un incremento del riesgo de DMAE exudativa en seis de los polimorfismos estudiados. El alelo G fue el más frecuente en el gen CFH (rs1410996) con un incremento de riesgo de desarrollar DMAE de 7 veces (OR 7.69, 95% CI 3.17-18.69), mientras que los portadores del alelo C en CFH (rs1061170) mostraron un incremento del riesgo de 3 veces de desarrollar la enfermedad (OR 3.22, 95% CI 1.93-5.40). En CFH (rs380390), la presencia del alelo G aumentaba por 2 el riesgo de desarrollo de DMAE (OR 2.52, 95% CI 1.47-4.30)...
PURPOSE: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C2 genes and exudative age-related macular degeneration (AMD) in a Spanish population and to describe sociodemographic characteristics in that population. METHODS: Between January 2015 and December 2018, patients diagnosed with exudative AMD attending the Unit of Ophtalmology of Hospital de Alcorcón (Madrid) and healthy volunteers were included in the study. We studied 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes.RESULTS: We studied 383 patients: 187 exudative AMD patients and 196 healthy controls (234 women, mean age 74.97 years, range 55-95 years). Significative differences were found between groups in the presence of dislipemia, hypertension, depression, history of stroke, rheumatological and cardiovascular disease and family history of AMD. We observed significative diferences in the genotipe distribution between groups, finding that six of the studied polymorphisms suposed an increased risk of developing AMD. The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17-18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk of AMD (OR 3.22, 95% CI 1.93-5.40). In CFH (rs380390), the presence of G allele increased the risk of AMD by 2-fold (OR 2.52, 95% CI 1.47-4.30)...
PURPOSE: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C2 genes and exudative age-related macular degeneration (AMD) in a Spanish population and to describe sociodemographic characteristics in that population. METHODS: Between January 2015 and December 2018, patients diagnosed with exudative AMD attending the Unit of Ophtalmology of Hospital de Alcorcón (Madrid) and healthy volunteers were included in the study. We studied 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes.RESULTS: We studied 383 patients: 187 exudative AMD patients and 196 healthy controls (234 women, mean age 74.97 years, range 55-95 years). Significative differences were found between groups in the presence of dislipemia, hypertension, depression, history of stroke, rheumatological and cardiovascular disease and family history of AMD. We observed significative diferences in the genotipe distribution between groups, finding that six of the studied polymorphisms suposed an increased risk of developing AMD. The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17-18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk of AMD (OR 3.22, 95% CI 1.93-5.40). In CFH (rs380390), the presence of G allele increased the risk of AMD by 2-fold (OR 2.52, 95% CI 1.47-4.30)...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, leída el 20-01-2022