Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits
Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR interval). In the current study, we meta-analyzed genome-wide association results...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2019
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/24006
- Acceso en línea:
- https://doi.org/10.1038/s41431-018-0295-z
https://repository.urosario.edu.co/handle/10336/24006
- Palabra clave:
- Allele
Article
Cohort analysis
Computer model
Dutchman
Electrocardiogram
Exon
Follow up
Gene frequency
Gene locus
Gene mapping
Genome
Genome-wide association study
Genotype
Heart rate
Human
Major clinical study
Meta analysis
Netherlands
Priority journal
Qrs interval
Qt interval
Quantitative trait
Rr interval
Sample
Single nucleotide polymorphism
- Rights
- License
- Abierto (Texto Completo)
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|
dc.title.spa.fl_str_mv |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
title |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
spellingShingle |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits Allele Article Cohort analysis Computer model Dutchman Electrocardiogram Exon Follow up Gene frequency Gene locus Gene mapping Genome Genome-wide association study Genotype Heart rate Human Major clinical study Meta analysis Netherlands Priority journal Qrs interval Qt interval Quantitative trait Rr interval Sample Single nucleotide polymorphism |
title_short |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
title_full |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
title_fullStr |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
title_full_unstemmed |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
title_sort |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
dc.subject.keyword.spa.fl_str_mv |
Allele Article Cohort analysis Computer model Dutchman Electrocardiogram Exon Follow up Gene frequency Gene locus Gene mapping Genome Genome-wide association study Genotype Heart rate Human Major clinical study Meta analysis Netherlands Priority journal Qrs interval Qt interval Quantitative trait Rr interval Sample Single nucleotide polymorphism |
topic |
Allele Article Cohort analysis Computer model Dutchman Electrocardiogram Exon Follow up Gene frequency Gene locus Gene mapping Genome Genome-wide association study Genotype Heart rate Human Major clinical study Meta analysis Netherlands Priority journal Qrs interval Qt interval Quantitative trait Rr interval Sample Single nucleotide polymorphism |
description |
Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR interval). In the current study, we meta-analyzed genome-wide association results from 30,000 mostly Dutch samples on four ECG traits: PR interval, QRS duration, QT interval, and RR interval. SNP genotype data was imputed using the Genome of the Netherlands reference panel encompassing 19 million SNPs, including millions of rare SNPs (minor allele frequency less than 5%). In addition to many known loci, we identified seven novel locus-trait associations: KCND3, NR3C1, and PLN for PR interval, KCNE1, SGIP1, and NFKB1 for QT interval, and ATP2A2 for QRS duration, of which six were successfully replicated. At these seven loci, we performed conditional analyses and annotated significant SNPs (in exons and regulatory regions), demonstrating involvement of cardiac-related pathways and regulation of nearby genes. © 2019, The Author(s). |
publishDate |
2019 |
dc.date.created.spa.fl_str_mv |
2019 |
dc.date.accessioned.none.fl_str_mv |
2020-05-26T00:07:29Z |
dc.date.available.none.fl_str_mv |
2020-05-26T00:07:29Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1038/s41431-018-0295-z |
dc.identifier.issn.none.fl_str_mv |
10184813 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/24006 |
url |
https://doi.org/10.1038/s41431-018-0295-z https://repository.urosario.edu.co/handle/10336/24006 |
identifier_str_mv |
10184813 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationEndPage.none.fl_str_mv |
962 |
dc.relation.citationIssue.none.fl_str_mv |
No. 6 |
dc.relation.citationStartPage.none.fl_str_mv |
952 |
dc.relation.citationTitle.none.fl_str_mv |
European Journal of Human Genetics |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 27 |
dc.relation.ispartof.spa.fl_str_mv |
European Journal of Human Genetics, ISSN:10184813, Vol.27, No.6 (2019); pp. 952-962 |
dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85060589966&doi=10.1038%2fs41431-018-0295-z&partnerID=40&md5=bde0cef16de811dba3fa2046484bba2a |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
dc.format.mimetype.none.fl_str_mv |
application/pdf |
dc.publisher.spa.fl_str_mv |
Nature Publishing Group |
institution |
Universidad del Rosario |
dc.source.instname.spa.fl_str_mv |
instname:Universidad del Rosario |
dc.source.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional EdocUR |
repository.name.fl_str_mv |
Repositorio institucional EdocUR |
repository.mail.fl_str_mv |
edocur@urosario.edu.co |
_version_ |
1814167597102399488 |
spelling |
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In the current study, we meta-analyzed genome-wide association results from 30,000 mostly Dutch samples on four ECG traits: PR interval, QRS duration, QT interval, and RR interval. SNP genotype data was imputed using the Genome of the Netherlands reference panel encompassing 19 million SNPs, including millions of rare SNPs (minor allele frequency less than 5%). In addition to many known loci, we identified seven novel locus-trait associations: KCND3, NR3C1, and PLN for PR interval, KCNE1, SGIP1, and NFKB1 for QT interval, and ATP2A2 for QRS duration, of which six were successfully replicated. At these seven loci, we performed conditional analyses and annotated significant SNPs (in exons and regulatory regions), demonstrating involvement of cardiac-related pathways and regulation of nearby genes. © 2019, The Author(s).application/pdfhttps://doi.org/10.1038/s41431-018-0295-z10184813https://repository.urosario.edu.co/handle/10336/24006engNature Publishing Group962No. 6952European Journal of Human GeneticsVol. 27European Journal of Human Genetics, ISSN:10184813, Vol.27, No.6 (2019); pp. 952-962https://www.scopus.com/inward/record.uri?eid=2-s2.0-85060589966&doi=10.1038%2fs41431-018-0295-z&partnerID=40&md5=bde0cef16de811dba3fa2046484bba2aAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAlleleArticleCohort analysisComputer modelDutchmanElectrocardiogramExonFollow upGene frequencyGene locusGene mappingGenomeGenome-wide association studyGenotypeHeart rateHumanMajor clinical studyMeta analysisNetherlandsPriority journalQrs intervalQt intervalQuantitative traitRr intervalSampleSingle nucleotide polymorphismGenome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traitsarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501van Setten, JessicaVerweij, NiekMbarek, HamdiNiemeijer, Maartje N.Trompet, StellaArking, Dan E.Brody, Jennifer A.Gandin, IlariaGrarup, NielsHall, Leanne M.Hemerich, DaianeLyytikäinen, Leo-PekkaMei, HaoMüller-Nurasyid, MartinaPrins, Bram P.Robino, AntoniettaSmith, Albert V.Warren, Helen R.Asselbergs, Folkert W.Boomsma, Dorret I.Caulfield, Mark J.Eijgelsheim, MarkFord, IanHansen, TorbenHarris, Tamara B.Heckbert, Susan R.Hottenga, Jouke-JanIorio, AnnamariaKors, Jan A.Linneberg, AllanMacFarlane, Peter W.Meitinger, ThomasNelson, Christopher P.Raitakari, Olli T.Silva Aldana, Claudia T.Sinagra, GianfrancoSinner, MoritzSoliman, Elsayed Z.Stoll, MonikaUitterlinden, Andrevan Duijn, Cornelia M.Waldenberger, MelanieAlonso, AlvaroGasparini, PaoloGudnason, VilmundurJamshidi, YaldaKääb, StefanKanters, Jørgen K.Lehtimäki, TerhoMunroe, Patricia B.Peters, AnnetteSamani, Nilesh J.Sotoodehnia, NonaUlivi, SheilaWilson, James G.de Geus, Eco J. C.Jukema, J. WouterStricker, Brunovan der Harst, Pimde Bakker, Paul I. W.Isaacs, Aaron10336/24006oai:repository.urosario.edu.co:10336/240062022-05-02 07:37:21.338101https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |