Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study

Bibliographic Details
Main Author: Rossi, Niccolò
Publication Date: 2024
Other Authors: Syed, Najeeb, Visconti, Alessia, Aliyev, Elbay, Berry, Sarah, Bourbon, Mafalda, Spector, Tim D., Hysi, Pirro G., Fakhro, Khalid A., Falchi, Mario
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.18/10410
Summary: Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic architecture of a complex trait implicated in cardiovascular disease.
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spelling Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population studyFamilial HypercholesterolaemiaDoenças Cardio e Cérebro-vascularesLDL-cholesterolLDL-CWhole Genome SequencingLeveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic architecture of a complex trait implicated in cardiovascular disease.Springer NatureRepositório Científico do Instituto Nacional de SaúdeRossi, NiccolòSyed, NajeebVisconti, AlessiaAliyev, ElbayBerry, SarahBourbon, MafaldaSpector, Tim D.Hysi, Pirro G.Fakhro, Khalid A.Falchi, Mario2025-03-05T15:45:03Z2024-06-282024-06-28T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/10410eng2056-794410.1038/s41525-024-00417-9info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-08T01:30:53Zoai:repositorio.insa.pt:10400.18/10410Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T01:13:51.350840Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
title Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
spellingShingle Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Rossi, Niccolò
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
LDL-cholesterol
LDL-C
Whole Genome Sequencing
title_short Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
title_full Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
title_fullStr Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
title_full_unstemmed Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
title_sort Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
author Rossi, Niccolò
author_facet Rossi, Niccolò
Syed, Najeeb
Visconti, Alessia
Aliyev, Elbay
Berry, Sarah
Bourbon, Mafalda
Spector, Tim D.
Hysi, Pirro G.
Fakhro, Khalid A.
Falchi, Mario
author_role author
author2 Syed, Najeeb
Visconti, Alessia
Aliyev, Elbay
Berry, Sarah
Bourbon, Mafalda
Spector, Tim D.
Hysi, Pirro G.
Fakhro, Khalid A.
Falchi, Mario
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Rossi, Niccolò
Syed, Najeeb
Visconti, Alessia
Aliyev, Elbay
Berry, Sarah
Bourbon, Mafalda
Spector, Tim D.
Hysi, Pirro G.
Fakhro, Khalid A.
Falchi, Mario
dc.subject.por.fl_str_mv Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
LDL-cholesterol
LDL-C
Whole Genome Sequencing
topic Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
LDL-cholesterol
LDL-C
Whole Genome Sequencing
description Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic architecture of a complex trait implicated in cardiovascular disease.
publishDate 2024
dc.date.none.fl_str_mv 2024-06-28
2024-06-28T00:00:00Z
2025-03-05T15:45:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/10410
url http://hdl.handle.net/10400.18/10410
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2056-7944
10.1038/s41525-024-00417-9
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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