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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, Carlos M. 
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.date.accessioned2019-10-03T15:18:04Z
dc.date.available2019-10-03T15:18:04Z
dc.date.created2018
dc.date.issued2018
dc.identifier.issn1755-8794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/20386
dc.descriptionBackground: 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).
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofBMC Medical Genomics, ISSN:1755-8794, Vol. 11 (2018)
dc.relation.urihttps://bmcmedgenomics.biomedcentral.com/track/pdf/10.1186/s12920-018-0339-9
dc.subjectAdult
dc.subjectArticle
dc.subjectChromosome 11
dc.subjectChromosome 15
dc.subjectDutchman
dc.subjectExome Analysis
dc.subjectFemale
dc.subjectGene
dc.subjectGene Locus
dc.subjectGenetic Analysis
dc.subjectGenetic Association
dc.subjectGenetic Variability
dc.subjectHeart Left Ventricle Hypertrophy
dc.subjectHuman
dc.subjectLimit Of Detection
dc.subjectLinkage Analysis
dc.subjectMajor Clinical Study
dc.subjectMale
dc.subjectMap3K11 Gene
dc.subjectMicroarray Analysis
dc.subjectMiddle Aged
dc.subjectNetherlands
dc.subjectPriority Journal
dc.subjectWhole Exome Sequencing
dc.subjectCromosoma 11
dc.subjectCromosoma 15
dc.subject.ddcEnfermedades 
dc.subject.lembCardiomegalia
dc.subject.lembEnfermedades cardiovasculares
dc.titleA combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
dc.typearticle
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
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 10100690
dc.contributor.gruplacCenter for Research in Genetics and Genomics (CIGGUR)
dc.contributor.gruplacInstitute of Translational Medicine (IMT)
dc.contributor.gruplacGENIUROS Research group
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.identifier.doi10.1186/s12920-018-0339-9


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