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A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy

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dc.contributor.gruplacCenter for Research in Genetics and Genomics (CIGGUR)
dc.contributor.gruplacInstitute of Translational Medicine (IMT)
dc.contributor.gruplacGENIUROS Research group
dc.creatorTamar Silva, Claudia
dc.creatorZorkoltseva, Irina V.
dc.creatorNiemeijer, Maartje N.
dc.creatorvan den Berg, Marten E.
dc.creatorAmin, Najaf
dc.creatorDemirkan, Ayşe
dc.creatorLeeuwen, Elisa van
dc.creatorIglesias, Adriana I.
dc.creatorPiñeros-Hernández, Laura B.
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorKors, Jan A.
dc.creatorKirichenko, Anatoly V.
dc.creatorWillemsen, Rob
dc.creatorOostra, Ben A.
dc.creatorStricker, Bruno H.
dc.creatorUitterlinden, André G.
dc.creatorAxenovich, Tatiana I.
dc.creatorDuijn, Cornelia M. van
dc.creatorIsaacs, Aaron
dc.creator.googleSilva, Claudia Tamar
dc.creator.googleZorkoltseva, Irina V.
dc.creator.googleNiemeijer, Maartje N.
dc.creator.googlevan den Berg, Marten E.
dc.creator.googleAmin, Najaf
dc.creator.googleDemirkan, Ayşe
dc.creator.googleLeeuwen, Elisa van
dc.creator.googleIglesias, Adriana I.
dc.creator.googlePiñeros-Hernández, Laura B.
dc.creator.googleRestrepo, Carlos M.
dc.creator.googleKors, Jan A.
dc.creator.googleKirichenko, Anatoly V.
dc.creator.googleWillemsen, Rob
dc.creator.googleOostra, Ben A.
dc.creator.googleStricker, Bruno H.
dc.creator.googleUitterlinden, André G.
dc.creator.googleAxenovich, Tatiana I.
dc.creator.googleDuijn, Cornelia M. van
dc.creator.googleIsaacs, Aaron
dc.date.accessioned2019-10-03T15:18:04Z
dc.date.available2019-10-03T15:18:04Z
dc.date.created2018
dc.date.issued2018
dc.description.abstractBackground: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved in three such measures and two principal components derived from them. Methods: The study was conducted among participants from the Erasmus Rucphen Family Study (ERF), a Dutch family-based sample from the southwestern Netherlands. Variance components linkage analyses were performed using Merlin. Regions of interest (LOD > 1.9) were fine-mapped using microarray and exome sequence data. Results: We observed one significant LOD score for the second principal component on chromosome 15 (LOD score = 3.01) and 12 suggestive LOD scores. Several loci contained variants identified in GWAS for these traits; however, these did not explain the linkage peaks, nor did other common variants. Exome sequence data identified two associated variants after multiple testing corrections were applied. Conclusions: We did not find common SNPs explaining these linkage signals. Exome sequencing uncovered a relatively rare variant in MAPK3K11 on chromosome 11 (MAF = 0.01) that helped account for the suggestive linkage peak observed for the first principal component. Conditional analysis revealed a drop in LOD from 2.01 to 0.88 for MAP3K11, suggesting that this variant may partially explain the linkage signal at this chromosomal location. MAP3K11 is related to the JNK pathway and is a pro-apoptotic kinase that plays an important role in the induction of cardiomyocyte apoptosis in various pathologies, including LVH. © 2018 The Author(s).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1186/s12920-018-0339-9
dc.identifier.issn1755-8794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/20386
dc.language.isoengspa
dc.relation.citationTitleBMC Medical Genomics
dc.relation.citationVolumeVol. 11
dc.relation.ispartofBMC Medical Genomics, ISSN:1755-8794, Vol. 11 (2018)spa
dc.relation.urihttps://bmcmedgenomics.biomedcentral.com/track/pdf/10.1186/s12920-018-0339-9spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.bibliographicCitationBenjamin, E.J., Levy, D., Why is left ventricular hypertrophy so predictive of morbidity and mortality? (1999) Am J Med Sci, 317 (3), pp. 168-175. , 1:STN:280:DyaK1M7pvVOruw%3D%3D 10100690spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectChromosome 11spa
dc.subjectChromosome 15spa
dc.subjectDutchmanspa
dc.subjectExome Analysisspa
dc.subjectGenespa
dc.subjectGene Locusspa
dc.subjectGenetic Analysisspa
dc.subjectGenetic Associationspa
dc.subjectGenetic Variabilityspa
dc.subjectHeart Left Ventricle Hypertrophyspa
dc.subjectHumanspa
dc.subjectLimit Of Detectionspa
dc.subjectLinkage Analysisspa
dc.subjectMajor Clinical Studyspa
dc.subjectMalespa
dc.subjectMap3K11 Genespa
dc.subjectMicroarray Analysisspa
dc.subjectNetherlandsspa
dc.subjectPriority Journalspa
dc.subjectWhole Exome Sequencingspa
dc.subjectCromosoma 11spa
dc.subjectCromosoma 15spa
dc.subject.ddcEnfermedadesspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordFemalespa
dc.subject.keywordMiddle Agedspa
dc.subject.lembCardiomegaliaspa
dc.subject.lembEnfermedades cardiovascularesspa
dc.titleA combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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