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Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing

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dc.contributorJiménez, Karen Marcela
dc.contributorMorel, Adrien
dc.contributorParada-Niño, Laura
dc.contributorGonzález-Rodriguez, María Alejandra
dc.contributorFlórez, Stephanie
dc.contributorBolívar-Salazar, David
dc.contributorBecerra-Bayona, Silvia
dc.contributorCastillo, Luisa Fernanda
dc.contributorCarlosama, Carolina
dc.contributorVaiman, Daniel
dc.contributor.advisorLaissue, Paul
dc.contributor.advisorArdila-Montealegre, Javier
dc.contributor.advisorSerrano, Norma
dc.contributor.gruplacGENIUROSspa
dc.creatorGómez-Murcia, Tatiana
dc.creatorAguirre-García, Angel
dc.creator.degreeEspecialista en Ginecología y Obstericiaspa
dc.creator.degreeLevelMaestría
dc.creator.degreetypePart timespa
dc.date.accessioned2021-08-19T15:28:37Z
dc.date.available2021-08-19T15:28:37Z
dc.date.created2020-09-05
dc.descriptionIntroduccion: La preeclampsia (PE) es una enfermedad multisistémica de ocurrencia frecuente que afecta aproximadamente al 5% de los embarazos. Los pacientes con PE pueden desarrollar el síndrome HELLP (hemólisis, enzimas hepáticas elevadas y plaquetas bajas), una afección potencialmente mortal para la madre y el feto. La investigación sobre el origen genético de HELLP ha sido relativamente infructuosa, principalmente porque la función placentaria normal y la regulación de la presión arterial implican la regulación fina de cientos de genes. Objetivo: Identificar nuevos genes y mutaciones que constituyan posibles biomarcadores del síndrome HELLP. Diseño del estudio: El presente estudio de casos y controles involucró la secuenciación del exoma completo de 79 mujeres HELLP no emparentadas. Las variantes candidatas se seleccionaron en una población de control constituida por 176 individuos. Se utilizaron filtros bioinformáticos estrictos para seleccionar variantes de secuencia potencialmente etiológicas en un subconjunto de 487 genes. Utilizamos un modelo robusto de mutación in silico para predecir el efecto potencial sobre la estructura de la proteína. Resultados: Identificamos numerosas variantes de secuencia en genes relacionados con angiogénesis / coagulación / regulación de la presión arterial, diferenciación / comunicación / adhesión celular, ciclo celular y regulación de genes transcripcionales, biología de la matriz extracelular, metabolismo de lípidos y respuesta inmunológica. Cinco variantes de secuencia generaron codones de parada prematuros en genes que desempeñan un papel esencial en la fisiología placentaria (STOX1, PDGFD, IGF2, MMP1 y DNAH11). Seis variantes (ERAP1- p.Ile915Thr, ERAP2- p.Leu837Ser, COMT-p.His192Gln, CSAD-p.Pro418Ser, CDH1- p.Ala298Thr y CCR2-p.Met249Lys) llevaron a la desestabilización de la estructura de las proteínas, ya que tenían una energía significativa y cambios relacionados con la interacción de residuos. Identificamos al menos dos mutaciones en el 57% de los pacientes, argumentando a favor de un origen poligénico para el síndrome HELLP. Conclusión: Nuestros resultados proporcionan evidencia novedosa sobre el origen genético de PE / HELLP, lo que lleva a la propuesta de nuevos biomarcadores, con potencial utilidad clínica.spa
dc.description.abstractBackground: Preeclampsia (PE) is a frequently occurring multisystemic disease affecting ~5% of pregnancies. PE patients may develop HELLP syndrome (haemolysis, elevated liver enzymes, and low platelet), a mother and foetus life-threatening condition. Research into HELLP’s genetic origin has been relatively unsuccessful, mainly because normal placental function and blood pressure regulation involve the fine-regulation of hundreds of genes. Objective: To identify new genes and mutations constituting potential biomarkers for HELLP syndrome. Study design: The present case-control study involved whole-exome sequencing of 79 unrelated HELLP women. Candidate variants were screened in a control population constituted by 176 individuals. Stringent bioinformatics filters were used for selecting potentially etiological sequence variants in a subset of 487 genes. We used robust in silico mutation modelling for predicting the potential effect on protein structure. Results: We identified numerous sequence variants in genes related to angiogenesis/coagulation/blood pressure regulation, cell differentiation/communication/adhesion, cell cycle and transcriptional gene regulation, extracellular matrix biology, lipid metabolism and immunological response. Five sequence variants generated premature stop codons in genes playing an essential role in placental physiology (STOX1, PDGFD, IGF2, MMP1 and DNAH11). Six variants (ERAP1- p.Ile915Thr, ERAP2- p.Leu837Ser, COMT-p.His192Gln, CSAD-p.Pro418Ser, CDH1- p.Ala298Thr and CCR2-p.Met249Lys) led to destabilisation of protein structure as they had significant energy and residue interaction-related changes. We identified at least two mutations in 57% of patients, arguing in favour of a polygenic origin for the HELLP syndrome. Conclusion: Our results provide novel evidence regarding PE/HELLP’s genetic origin, leading to new biomarkers, having potential clinical usefulness, being proposed.spa
dc.description.embargo2021-08-19: Script de automatizacion de embargos. Se bloquea el acceso al articulo publicado por Elsevier. debido las restricciones de divulgación de copias del editorspa
dc.format.extent10 pp.spa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.48713/10336_32279
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/32279
dc.language.isoengspa
dc.publisherUniversidad del Rosario
dc.publisher.departmentEscuela de Medicina y Ciencias de la Salud
dc.publisher.programEspecialización en Ginecología y Obstericia
dc.rights.accesRightsinfo:eu-repo/semantics/closedAccess
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dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectbiomarcadores genéticosspa
dc.subjectSindrome HELLPspa
dc.subjectMedicina molecularspa
dc.subjectSecuenciación exoma completospa
dc.subject.keywordGenetic biomarkersspa
dc.subject.keywordHELLP syndromespa
dc.subject.keywordMolecular medicinespa
dc.subject.keywordProtein modelling Whole-exome sequencing (WES)spa
dc.titleIdentifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencingspa
dc.title.TranslatedTitleIdentificando nuevos biomarcadores geneticos potenciales para síndrome HELLP usando secuenciación masiva en paralelospa
dc.typemasterThesiseng
dc.type.documentArtículospa
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaTesis de maestríaspa
local.department.reportEscuela de Medicina y Ciencias de la Saludspa
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Especialización en Ginecología y Obstetricia