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Genotipificación de SNVs de la región promotora de los genes IL-6, IL-1β, TNF-a asociados a respuesta inflamatoria en los fenotipos de Apnea Obstructiva del Sueño y Enfermedad Periodontal

dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacional
dc.contributor.advisorRey Buitrago, Mauricio
dc.contributor.advisorOtero Mendoza, Liliana Margarita
dc.contributor.advisorGonzález Martínez, Farith Damián
dc.contributor.authorSir-Mendoza, Francisco Javier
dc.date.accessioned2022-08-11T14:25:08Z
dc.date.available2022-08-11T14:25:08Z
dc.date.issued2022-03-04
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/81845
dc.descriptiongráficas, ilustraciones, tablas
dc.description.abstractEl objetivo del presente estudio fue determinar variantes de nucleótido único (SNVs) en la región promotora de los genes IL-1β c.-511C>T, c.-31T>C; TNF-α c.-308 G>A; IL-6 c.- 572G>C, c.-174C>G, y los niveles de proteínas de estas citoquinas proinflamatorias en saliva de individuos con apnea obstructiva del sueño (AOS) y periodontitis crónica (PC). Se realizó un estudio de casos y controles que comprendió un total de 129 individuos de Bogotá, Colombia. El grupo de casos fue subdividido en PC, AOS, PC más AOS. Para la genotipificación se realizó extracción de ADN y amplificación por PCR para llevar a cabo secuenciación Sanger. Los datos fueron analizados mediante estadística descriptiva e inferencial con el programa R (v3.6.2). Los alelos IL-1β presentaron asociación significativa (IL-1β c.-511T p=0.0007 (OR 2.83 IC: 1.57-5.10), IL-1β c.-31C p=0.001 (OR 2.81 IC: 1.51- 5.20)) y en sus estados homocigotos (IL-1β c.-511TT p=0.002 (OR 7.9 IC : 2.09-29.8), IL-1β c.-31CC p=0.0001 (OR 7.2 IC: 1.8-27.9)). Estas estimaciones se obtuvieron al comparar individuos con AOS vs controles, y sujetos con PC más AOS vs controles, sugiriendo que individuos con estos SNVs poseen más de dos veces riesgo de desarrollar estos fenotipos inflamatorios, incluso aumenta a más de 7 veces siendo homocigotos. En ambos análisis, alélico y genotípico, el efecto de riesgo se mantuvo en pacientes diagnosticados concomitantemente con ambas enfermedades. Este efecto puede ser correlacionado con los niveles de proteínas, individuos IL-1β c.-511TT con PC más AOS tuvieron mayores niveles de proteína IL-1β en saliva que controles IL-1β c.-511 CC (p= 0.011), así mismo, controles IL-1β c.-31TT vs PC más AOS IL-1β c.-31 CT (p= 0.001). Los alelos de IL-1β analizados incrementan el riesgo de desarrollar AOS y/o AOS más PC simultáneamente, siendo mayor en genotipos homocigotos. Por otro lado, se ha identificado una nueva variante en IL-1β con un efecto protector (IL-1β c.4654A p=0.028 (OR 0.22 IC:0.06-0.7)). (Texto tomado de la fuente)
dc.description.abstractThe aim of the present research was to determine single nucleotide variants (SNVs) in the promoter region of IL-1β (c.-511C>T, c.-31T>C), TNF-α (c.-308G>A), IL-6 (c.-572G>C, c.-174C>G) gene, and the protein level of these proinflammatory cytokines in saliva of individuals with Obstructive Sleep Apnea (OSA) and Chronic periodontitis (CP). A case and control study that comprised a total 129 subjects from Bogotá, Colombia was conducted. The cases group was subdivided into a group with only CP, only with OSA, and presenting CP and OSA in concomitance. For genotyping, DNA extraction and PCR amplification were performed to carry out Sanger sequencing. Descriptive and inferential statistic was performed using R (v3.6.2). The IL-1β alleles had significant association (IL-1β c.-511T p=0.0007 (OR 2.83 CI: 1.57-5.10), IL-1β c.-31C p=0.001 (OR 2.81 CI: 1.51-5.20)) as well as its homozygous states (IL-1β c.-511TT p=0.002 (OR 7.9 CI : 2.09-29.8), IL-1β c.-31CC p=0.0001 (OR 7.2 CI: 1.8-27.9)). These estimations were obtained when comparing individuals with OSA vs Controls and subjects with CP + OSA vs Controls, suggesting that individuals with the mentioned SNVs have two times more risk to develop these inflammatory phenotypes and the risk is even seven times more when having two copies of the allele. In both allelic and genotypes analyzes the risk effect of the SNVs was maintained in patients diagnosed with both diseases. In addition, this genotypic effect could be correlated to the protein level, homozygous individuals IL-1β c.-511TT diagnosed simultaneously with OSA and CP had more IL-1β protein level in saliva than controls IL-1β c.-511CC (p= 0.011), as well as when comparing controls IL-1β c.-31TT with OSA and CP IL-1β c.-31 CT (p= 0.001). The alleles IL-1β c.-511T and IL-1β c.-31C increase the risk of develop OSA and/or OSA with CP concomitantly, even more in a homozygous state. Otherwise, a novel variant in IL-1β has been identified with a protective effect (IL-1β c.4654A p=0.028 (OR 0.22 IC:0.06-0.7)). (Text taken fron the source)
dc.format.extentxv, 82 páginas
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.publisherUniversidad Nacional de Colombia
dc.publisherUniversidad Nacional de Colombia
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddcGenetica
dc.subject.ddcPatologia
dc.titleGenotipificación de SNVs de la región promotora de los genes IL-6, IL-1β, TNF-a asociados a respuesta inflamatoria en los fenotipos de Apnea Obstructiva del Sueño y Enfermedad Periodontal
dc.typeTrabajo de grado - Maestría
dc.type.driverinfo:eu-repo/semantics/masterThesis
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dc.publisher.programBogotá - Medicina - Maestría en Genética Humana
dc.contributor.researchgroupGenetica clinica
dc.description.degreelevelMaestría
dc.description.degreenameMagíster en Genética Humana
dc.description.methodsSe realizó un estudio de casos y controles que comprendió un total de 129 individuos de Bogotá, Colombia. El grupo de casos fue subdividido en PC, AOS, PC más AOS. Para la genotipificación se realizó extracción de ADN y amplificación por PCR para llevar a cabo secuenciación Sanger. Los datos fueron analizados mediante estadística descriptiva e inferencial con el programa R (v3.6.2).
dc.identifier.instnameUniversidad Nacional de Colombia
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombia
dc.identifier.repourlhttps://repositorio.unal.edu.co/
dc.publisher.departmentInstituto de Genética
dc.publisher.facultyFacultad de Medicina
dc.publisher.placeBogotá, Colombia
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotá
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.subject.proposalPeriodontitis
dc.subject.proposalApnea obstructiva del sueño
dc.subject.proposalSNV
dc.subject.proposalCitoquinas
dc.subject.proposalPeriodontitis
dc.subject.proposalObstructive sleep apnea
dc.subject.proposalSNV
dc.subject.proposalcytokines
dc.title.translatedGenotyping of SNVs of the promoter region of the genes IL-6, IL-1β, TNF-a associated to inflammatory response in Obstructive Sleep Apnea and Periodontal Disease phenotypes
dc.type.coarhttp://purl.org/coar/resource_type/c_bdcc
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.redcolhttp://purl.org/redcol/resource_type/TM
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2
oaire.awardtitleGenotipificación de SNVs de la región promotora de los genes IL-6, IL-1β, TNF-α y sus niveles proteicos asociados a respuesta inflamatoria en Apnea Obstructiva del Sueño y Enfermedad Periodontal
oaire.fundernameUniversidad Nacional de Colombia
oaire.fundernamePontificia Universidad Javeriana
dcterms.audience.professionaldevelopmentInvestigadores


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