Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans

9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al.

Detalles Bibliográficos
Autores: Putku, Margus, Comas, David, Laan, Maris
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2011
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/43578
Acceso en línea:http://hdl.handle.net/10261/43578
Access Level:acceso abierto
Palabra clave:WNK1
Polymorphism screening
AluYb8
Blood pressure
Meta-analysis
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spelling Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in EuropeansPutku, MargusComas, DavidLaan, MarisWNK1Polymorphism screeningAluYb8Blood pressureMeta-analysis9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al.Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. WNK1 and WNK4 conserved noncoding regions were targeted to polymorphism screening using DHPLC and DGGE. The scan identified an undescribed polymorphic AluYb8 insertion in WNK1 intron 10. Screening in primates revealed that this Alu-insertion has probably occurred in human lineage. Genotyping in 18 populations from Europe, Asia, and Africa (n = 854) indicated an expansion of the WNK1 AluYb8 bearing chromosomes out of Africa. The allele frequency in Sub-Saharan Africa was ∼3.3 times lower than in other populations (4.8 vs. 15.8%; P = 9.7 × 10−9). Meta-analysis across three European sample sets (n = 3,494; HYPEST, Estonians; BRIGHT, the British; CADCZ, Czech) detected significant association of the WNK1 AluYb8 insertion with blood pressure (BP; systolic BP, P = 4.03 × 10−3, effect 1.12; diastolic BP, P = 1.21 × 10−2, effect 0.67). Gender-stratified analysis revealed that this effect might be female-specific (n = 2,088; SBP, P = 1.99 × 10−3, effect 1.59; DBP P = 3.64 × 10−4, effect 1.23; resistant to Bonferroni correction), whereas no statistical support was identified for the association with male BP (n = 1,406). In leucocytes, the expressional proportions of the full-length WNK1 transcript and the splice-form skipping exon 11 were significantly shifted in AluYb8 carriers compared to noncarriers. The WNK1 AluYb8 insertion might affect human BP via altering the profile of alternatively spliced transcripts.This work forms part of the research themes contributing to the translational research portfolio for Barts and the London Cardiovascular Biomedical Research Unit, which is supported and funded by the National Institute of Health Research. K.K. has been supported by personal travel stipends from the Kristjan-Jaak Foundation and EC ECOGENE project.Peer reviewedWiley-BlackwellConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]201120112011info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Postprintinfo:eu-repo/semantics/acceptedVersionhttp://hdl.handle.net/10261/43578reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1002/humu.21508Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/435782026-05-22T06:33:51Z
dc.title.none.fl_str_mv Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
title Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
spellingShingle Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
Putku, Margus
WNK1
Polymorphism screening
AluYb8
Blood pressure
Meta-analysis
title_short Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
title_full Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
title_fullStr Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
title_full_unstemmed Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
title_sort Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
dc.creator.none.fl_str_mv Putku, Margus
Comas, David
Laan, Maris
author Putku, Margus
author_facet Putku, Margus
Comas, David
Laan, Maris
author_role author
author2 Comas, David
Laan, Maris
author2_role author
author
dc.contributor.none.fl_str_mv Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv WNK1
Polymorphism screening
AluYb8
Blood pressure
Meta-analysis
topic WNK1
Polymorphism screening
AluYb8
Blood pressure
Meta-analysis
description 9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al.
publishDate 2011
dc.date.none.fl_str_mv 2011
2011
2011
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Postprint
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/43578
url http://hdl.handle.net/10261/43578
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.1002/humu.21508
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Wiley-Blackwell
publisher.none.fl_str_mv Wiley-Blackwell
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.81155

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