{"id":{"repo_id":"salamanca","oai_identifier":"oai:gredos.usal.es:10366/123009"},"canonical_url":"https://search.dev.ndltd.org/etd/salamanca/oai:gredos.usal.es:10366/123009","repository":{"repo_id":"salamanca","name":"Universidad de Salamanca","base_url":"https://gredos.usal.es/oai/request"},"display":{"title":"Análisis de polimorfismos de genes relacionados con la función endotelial y la muerte celular en demencia vascular y enfermedad de alzheimer","abstract":"[EN] INTRODUCTION : Alzheimer 's disease ( AD) and vascular dementia (VD ) , the two most common causes of dementia, represent a major health problem . The onset of dementia may be determined by genetic and environmental factors. EA and DV share pathogenic mechanisms such as endothelial dysfunction and cell death . Single nucleotide polymorphisms ( SNPs ) of genes encoding vascular endothelial growth factor ( VEGF-A ) and its receptor ( VEGFR-2) , endothelial nitric oxide synthase (eNOS ) or the tumor suppressor protein ( Tp53 ) might regulate the risk of these dementias. OBJECTIVES : Analyze the relationship of SNPs - 460C > T and - 2578A > C of VEGFA gene, - 604A > G of the VEGFR2 gene +894 G > T of the eNOS gene and the Tp53 Arg72Pro gene as well as sociodemographic and clinical risk factors DV develop ( and its subtypes ) and EA . PATIENTS AND CONTROLS: We conducted a case-control study which included 150 patients with DV ( DV 74 cortical and subcortical DV 76 ) , 147 patients with AD and 150 controls over 70 years that there was no evidence of clinical or psychometric cognitive impairment. Clinical data and blood samples were collected . Genotyping was accomplished by DNA digestion with restriction nucleases (PCR -RFLP ) and PCR with Taqman probes ( qRT- PCR ) . RESULTS : The population included in our study , allele - 460C - 2578A and the VEGFA gene (OR : 0.625 , P = 0.042 ) and +894 G allele of the eNOS gene ( OR: 0.606 , P = 0.037 ) were associated with lower risk of EA in over 80 years. The - 604A allele of the VEGFR2 gene ( OR: 0.555 , P = 0.004 ) was associated with a lower risk of subcortical DV . The Pro72 allele of Tp53 gene (OR : 0.500 , P = 0.001 ) was associated with a lower risk of AD and the Arg72 allele (OR : 1.768 , P = 0.026 ) was associated with an increased risk of cortical DV . A low level of education has a significant influence on the development of dementia in general , and vascular risk factors in the development of DV in particular. CONCLUSIONS : The results of our study suggest that polymorphisms associated with endothelial function and cell death may vary, at least in part , the susceptibility to the risk of dementia.","abstract_html":"[EN] INTRODUCTION : Alzheimer 's disease ( AD) and vascular dementia (VD ) , the two most common causes of dementia, represent a major health problem . The onset of dementia may be determined by genetic and environmental factors. EA and DV share pathogenic mechanisms such as endothelial dysfunction and cell death . Single nucleotide polymorphisms ( SNPs ) of genes encoding vascular endothelial growth factor ( VEGF-A ) and its receptor ( VEGFR-2) , endothelial nitric oxide synthase (eNOS ) or the tumor suppressor protein ( Tp53 ) might regulate the risk of these dementias. OBJECTIVES : Analyze the relationship of SNPs - 460C > T and - 2578A > C of VEGFA gene, - 604A > G of the VEGFR2 gene +894 G > T of the eNOS gene and the Tp53 Arg72Pro gene as well as sociodemographic and clinical risk factors DV develop ( and its subtypes ) and EA . PATIENTS AND CONTROLS: We conducted a case-control study which included 150 patients with DV ( DV 74 cortical and subcortical DV 76 ) , 147 patients with AD and 150 controls over 70 years that there was no evidence of clinical or psychometric cognitive impairment. Clinical data and blood samples were collected . Genotyping was accomplished by DNA digestion with restriction nucleases (PCR -RFLP ) and PCR with Taqman probes ( qRT- PCR ) . RESULTS : The population included in our study , allele - 460C - 2578A and the VEGFA gene (OR : 0.625 , P = 0.042 ) and +894 G allele of the eNOS gene ( OR: 0.606 , P = 0.037 ) were associated with lower risk of EA in over 80 years. The - 604A allele of the VEGFR2 gene ( OR: 0.555 , P = 0.004 ) was associated with a lower risk of subcortical DV . The Pro72 allele of Tp53 gene (OR : 0.500 , P = 0.001 ) was associated with a lower risk of AD and the Arg72 allele (OR : 1.768 , P = 0.026 ) was associated with an increased risk of cortical DV . A low level of education has a significant influence on the development of dementia in general , and vascular risk factors in the development of DV in particular. CONCLUSIONS : The results of our study suggest that polymorphisms associated with endothelial function and cell death may vary, at least in part , the susceptibility to the risk of dementia.","abstract_has_math":false,"creators":["Manso Calderón, Raquel"],"institution":null,"degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2013,"date_issued":"2013-07-05","date_published":"2013-07-05","updated_at":"2026-07-27T21:02:15Z","subjects":["Academic dissertations","clinical genetics","Neurology","Tesis y disertaciones académicas","Universidad de Salamanca (España)","Genetica clinica","Neurología"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["hdl:10366/123009"],"render_values":[{"text":"hdl:10366/123009","href":null,"code":true}]}]},"links":{"outbound_url":"https://doi.org/10.14201/gredos.123009","outbound_label":"DOI","outbound_source":"dc:identifier.doi"},"metadata_groups":[{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.issued","label":"Date","values":["2013-07-05"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Academic dissertations","clinical genetics","Neurology","Tesis y disertaciones académicas","Universidad de Salamanca (España)","Genetica clinica","Neurología"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["hdl:10366/123009"]},{"key":"dc:identifier.doi","label":"DOI","values":["10.14201/gredos.123009"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.other","label":"Dc Description Other","values":["[EN] INTRODUCTION : Alzheimer 's disease ( AD) and vascular dementia (VD ) , the two most common causes of dementia, represent a major health problem . The onset of dementia may be determined by genetic and environmental factors. EA and DV share pathogenic mechanisms such as endothelial dysfunction and cell death . Single nucleotide polymorphisms ( SNPs ) of genes encoding vascular endothelial growth factor ( VEGF-A ) and its receptor ( VEGFR-2) , endothelial nitric oxide synthase (eNOS ) or the tumor suppressor protein ( Tp53 ) might regulate the risk of these dementias. OBJECTIVES : Analyze the relationship of SNPs - 460C > T and - 2578A > C of VEGFA gene, - 604A > G of the VEGFR2 gene +894 G > T of the eNOS gene and the Tp53 Arg72Pro gene as well as sociodemographic and clinical risk factors DV develop ( and its subtypes ) and EA . PATIENTS AND CONTROLS: We conducted a case-control study which included 150 patients with DV ( DV 74 cortical and subcortical DV 76 ) , 147 patients with AD and 150 controls over 70 years that there was no evidence of clinical or psychometric cognitive impairment. Clinical data and blood samples were collected . Genotyping was accomplished by DNA digestion with restriction nucleases (PCR -RFLP ) and PCR with Taqman probes ( qRT- PCR ) . RESULTS : The population included in our study , allele - 460C - 2578A and the VEGFA gene (OR : 0.625 , P = 0.042 ) and +894 G allele of the eNOS gene ( OR: 0.606 , P = 0.037 ) were associated with lower risk of EA in over 80 years. The - 604A allele of the VEGFR2 gene ( OR: 0.555 , P = 0.004 ) was associated with a lower risk of subcortical DV . The Pro72 allele of Tp53 gene (OR : 0.500 , P = 0.001 ) was associated with a lower risk of AD and the Arg72 allele (OR : 1.768 , P = 0.026 ) was associated with an increased risk of cortical DV . A low level of education has a significant influence on the development of dementia in general , and vascular risk factors in the development of DV in particular. CONCLUSIONS : The results of our study suggest that polymorphisms associated with endothelial function and cell death may vary, at least in part , the susceptibility to the risk of dementia.","[ES] INTRODUCCIÓN: La enfermedad de Alzheimer (EA) y la demencia vascular (DV), las dos causas más frecuentes de demencia, representan un importante problema sociosanitario. La aparición de demencia puede estar determinada por factores genéticos y ambientales. EA y DV comparten mecanismos patogénicos como la disfunción endotelial y la muerte celular. Polimorfismos de un solo nucleótido (SNPs) de genes que codifican el factor de crecimiento endotelial vascular (VEGFA) y su receptor (VEGFR-2), la sintasa endotelial del óxido nítrico (eNOS) o la proteína supresora tumoral (Tp53) podrían modular el riesgo de padecer estas demencias. OBJETIVOS: Analizar la relación de los SNPs -460C>T y -2578A>C del gen VEGFA, -604A>G del gen VEGFR2, +894G>T del gen eNOS y Arg72Pro del gen Tp53, así como de factores sociodemográficos y clínicos con el riesgo de desarrollar DV (y sus subtipos) y EA. PACIENTES Y CONTROLES: Realizamos un estudio de casos y controles en el que se incluyó a 150 pacientes con DV (74 con DV cortical y 76 con DV subcortical), 147 pacientes con EA y 150 controles mayores de 70 años en los que no existía evidencia clínica ni psicométrica de deterioro cognitivo. Se recogieron datos clínicos y muestras de sangre. El genotipado del ADN se realizó mediante digestión con nucleasas de restricción (PCR-RFLP) y PCR con sondas Taqman (qRT-PCR). RESULTADOS: En la población incluida en nuestro estudio, los alelos -460C y -2578A del gen VEGFA (OR:0.625; p=0.042) y el alelo +894G del gen eNOS (OR:0.606; p=0.037) se asociaron a menor riesgo de EA en mayores de 80 años. El alelo -604A del gen VEGFR2 (OR:0.555; p=0.004) se asoció a un menor riesgo de DV subcortical. El alelo Pro72 del gen Tp53 (OR:0.500; p=0.001) se asoció a un menor riesgo de EA y el alelo Arg72 (OR:1.768; p=0.026) se asoció a un mayor riesgo de DV cortical. Un bajo nivel educativo influye de forma significativa en el desarrollo de demencia en general; y los factores de riesgo vascular, en el desarrollo de DV en particular. CONCLUSIONES: Los resultados de nuestro trabajo sugieren que los polimorfismos relacionados con la función endotelial y la muerte celular pueden variar, al menos en parte, la susceptibilidad al riesgo de padecer demencia."]},{"key":"dc:title","label":"Title","values":["Análisis de polimorfismos de genes relacionados con la función endotelial y la muerte celular en demencia vascular y enfermedad de alzheimer"]}]}],"canonical_facts":{"dc:date.issued":["2013-07-05"],"dc:description.other":["[EN] INTRODUCTION : Alzheimer 's disease ( AD) and vascular dementia (VD ) , the two most common causes of dementia, represent a major health problem . The onset of dementia may be determined by genetic and environmental factors. EA and DV share pathogenic mechanisms such as endothelial dysfunction and cell death . Single nucleotide polymorphisms ( SNPs ) of genes encoding vascular endothelial growth factor ( VEGF-A ) and its receptor ( VEGFR-2) , endothelial nitric oxide synthase (eNOS ) or the tumor suppressor protein ( Tp53 ) might regulate the risk of these dementias. OBJECTIVES : Analyze the relationship of SNPs - 460C > T and - 2578A > C of VEGFA gene, - 604A > G of the VEGFR2 gene +894 G > T of the eNOS gene and the Tp53 Arg72Pro gene as well as sociodemographic and clinical risk factors DV develop ( and its subtypes ) and EA . PATIENTS AND CONTROLS: We conducted a case-control study which included 150 patients with DV ( DV 74 cortical and subcortical DV 76 ) , 147 patients with AD and 150 controls over 70 years that there was no evidence of clinical or psychometric cognitive impairment. Clinical data and blood samples were collected . Genotyping was accomplished by DNA digestion with restriction nucleases (PCR -RFLP ) and PCR with Taqman probes ( qRT- PCR ) . RESULTS : The population included in our study , allele - 460C - 2578A and the VEGFA gene (OR : 0.625 , P = 0.042 ) and +894 G allele of the eNOS gene ( OR: 0.606 , P = 0.037 ) were associated with lower risk of EA in over 80 years. The - 604A allele of the VEGFR2 gene ( OR: 0.555 , P = 0.004 ) was associated with a lower risk of subcortical DV . The Pro72 allele of Tp53 gene (OR : 0.500 , P = 0.001 ) was associated with a lower risk of AD and the Arg72 allele (OR : 1.768 , P = 0.026 ) was associated with an increased risk of cortical DV . A low level of education has a significant influence on the development of dementia in general , and vascular risk factors in the development of DV in particular. CONCLUSIONS : The results of our study suggest that polymorphisms associated with endothelial function and cell death may vary, at least in part , the susceptibility to the risk of dementia.","[ES] INTRODUCCIÓN: La enfermedad de Alzheimer (EA) y la demencia vascular (DV), las dos causas más frecuentes de demencia, representan un importante problema sociosanitario. La aparición de demencia puede estar determinada por factores genéticos y ambientales. EA y DV comparten mecanismos patogénicos como la disfunción endotelial y la muerte celular. Polimorfismos de un solo nucleótido (SNPs) de genes que codifican el factor de crecimiento endotelial vascular (VEGFA) y su receptor (VEGFR-2), la sintasa endotelial del óxido nítrico (eNOS) o la proteína supresora tumoral (Tp53) podrían modular el riesgo de padecer estas demencias. OBJETIVOS: Analizar la relación de los SNPs -460C>T y -2578A>C del gen VEGFA, -604A>G del gen VEGFR2, +894G>T del gen eNOS y Arg72Pro del gen Tp53, así como de factores sociodemográficos y clínicos con el riesgo de desarrollar DV (y sus subtipos) y EA. PACIENTES Y CONTROLES: Realizamos un estudio de casos y controles en el que se incluyó a 150 pacientes con DV (74 con DV cortical y 76 con DV subcortical), 147 pacientes con EA y 150 controles mayores de 70 años en los que no existía evidencia clínica ni psicométrica de deterioro cognitivo. Se recogieron datos clínicos y muestras de sangre. El genotipado del ADN se realizó mediante digestión con nucleasas de restricción (PCR-RFLP) y PCR con sondas Taqman (qRT-PCR). RESULTADOS: En la población incluida en nuestro estudio, los alelos -460C y -2578A del gen VEGFA (OR:0.625; p=0.042) y el alelo +894G del gen eNOS (OR:0.606; p=0.037) se asociaron a menor riesgo de EA en mayores de 80 años. El alelo -604A del gen VEGFR2 (OR:0.555; p=0.004) se asoció a un menor riesgo de DV subcortical. El alelo Pro72 del gen Tp53 (OR:0.500; p=0.001) se asoció a un menor riesgo de EA y el alelo Arg72 (OR:1.768; p=0.026) se asoció a un mayor riesgo de DV cortical. Un bajo nivel educativo influye de forma significativa en el desarrollo de demencia en general; y los factores de riesgo vascular, en el desarrollo de DV en particular. CONCLUSIONES: Los resultados de nuestro trabajo sugieren que los polimorfismos relacionados con la función endotelial y la muerte celular pueden variar, al menos en parte, la susceptibilidad al riesgo de padecer demencia."],"dc:identifier":["hdl:10366/123009"],"dc:identifier.doi":["10.14201/gredos.123009"],"dc:subject":["Academic dissertations","clinical genetics","Neurology","Tesis y disertaciones académicas","Universidad de Salamanca (España)","Genetica clinica","Neurología"],"dc:title":["Análisis de polimorfismos de genes relacionados con la función endotelial y la muerte celular en demencia vascular y enfermedad de alzheimer"],"dc:type":["info:eu-repo/semantics/doctoralThesis"]},"updated_at":"2026-07-27T21:02:15Z"}