Análisis de asociación genética caso–control entre variantes de los genes APOE, ABCA7, CLU y TREM2 y el deterioro cognitivo leve en población del Atlántico
| datacite.rights | http://purl.org/coar/access_right/c_f1cf | |
| dc.contributor.advisor | Arboleda Bustos, Carlos Eduardo | |
| dc.contributor.author | Lozano Gutierrez, Semiramis Giselle | |
| dc.date.accessioned | 2025-11-28T14:39:15Z | |
| dc.date.available | 2025-11-28T14:39:15Z | |
| dc.date.issued | 2025 | |
| dc.description.abstract | El Deterioro Cognitivo Leve (DCL) es una condición intermedia entre el envejecimiento normal y la demencia, de origen multifactorial. El objetivo fue identificar variantes genéticas en los genes CLU, ABCA7, APOE y TREM2 en pacientes con DCL y controles sanos del Departamento del Atlántico. Se realizó un estudio de casos y controles en 45 participantes (26 casos y 19 controles) mediante secuenciación genómica completa (DNBSEQ™) y análisis con BWA, GATK, ANNOVAR y PLINK. El PCA mostró una estructura genética mestiza con predominio de ancestría latinoamericana. El SNP rs7748513 en TREM2 se asoció con DCL (OR=8,81; p=0,017). En ABCA7, el indel rs3833881 mostró efecto protector (OR=0,4; p=0,0365). En CLU, cuatro SNPs se asociaron con menor riesgo. El alelo APOE ε4 fue más frecuente en casos con puntajes bajos de MoCA. Los resultados respaldan la contribución genética al DCL en esta población. | spa |
| dc.description.abstract | Mild Cognitive Impairment (MCI) is an intermediate condition between normal aging and dementia with multifactorial etiology. This study aimed to identify genetic variants in CLU, ABCA7, APOE, and TREM2 in patients with MCI and healthy controls from the Department of Atlántico, Colombia. A case–control study was conducted with 45 participants (26 cases and 19 controls) using whole-genome sequencing (DNBSEQ™) and bioinformatic analysis with BWA, GATK, ANNOVAR, and PLINK. PCA showed a mixed genetic structure with predominant Latin American ancestry. The TREM2 rs7748513 variant was significantly associated with MCI (OR=8.81; p=0.017). In ABCA7, the rs3833881 indel showed a protective effect (OR=0.4; p=0.0365). Four SNPs in CLU were associated with reduced risk. The APOE ε4 allele was more frequent in cases with lower MoCA scores. These findings support the genetic contribution to MCI and the relevance of genomic approaches for early detection. | eng |
| dc.format.mimetype | ||
| dc.identifier.uri | https://hdl.handle.net/20.500.12442/17137 | |
| dc.language.iso | spa | |
| dc.publisher | Ediciones Universidad Simón Bolívar | spa |
| dc.publisher | Facultad de Ciencias Básicas y Biomédicas | spa |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | eng |
| dc.rights.accessrights | info:eu-repo/semantics/embargoedAccess | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Deterioro cognitivo leve | spa |
| dc.subject | Genética | spa |
| dc.subject | APOE | spa |
| dc.subject | TREM2 | spa |
| dc.subject | ABCA7 | spa |
| dc.subject | CLU | spa |
| dc.subject | Bioinformática | spa |
| dc.subject.keywords | Mild Cognitive Impairment | eng |
| dc.subject.keywords | Genetics | eng |
| dc.subject.keywords | Bioinformatics. | eng |
| dc.title | Análisis de asociación genética caso–control entre variantes de los genes APOE, ABCA7, CLU y TREM2 y el deterioro cognitivo leve en población del Atlántico | spa |
| dc.type.driver | info:eu-repo/semantics/masterThesis | |
| dc.type.spa | Trabajo de grado máster | |
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| oaire.version | info:eu-repo/semantics/acceptedVersion | |
| sb.investigacion | Genética humana y genómica | spa |
| sb.programa | Maestría en Genética | spa |
| sb.sede | Sede Barranquilla | spa |
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