Publication
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
| dc.contributor.author | Rossi, Niccolò | |
| dc.contributor.author | Syed, Najeeb | |
| dc.contributor.author | Visconti, Alessia | |
| dc.contributor.author | Aliyev, Elbay | |
| dc.contributor.author | Berry, Sarah | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.contributor.author | Spector, Tim D. | |
| dc.contributor.author | Hysi, Pirro G. | |
| dc.contributor.author | Fakhro, Khalid A. | |
| dc.contributor.author | Falchi, Mario | |
| dc.date.accessioned | 2025-03-05T15:45:03Z | |
| dc.date.available | 2025-03-05T15:45:03Z | |
| dc.date.issued | 2024-06-28 | |
| dc.description.abstract | 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. | por |
| dc.description.sponsorship | TwinsUK is funded by the Wellcome Trust, Medical Research Council, European Union, Chronic Disease Research Foundation (CDRF), the National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy’s and St. Thomas’ NHS Foundation Trust in partnership with King’s College London. QBB study was funded in part by the Qatar National Research Fund’s Path towards Precision Medicine award (PPM1-1229-15002). | |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | NPJ Genom Med. 2024 Jun 28;9(1):36. doi: 10.1038/s41525-024-00417-9 | |
| dc.identifier.doi | 10.1038/s41525-024-00417-9 | pt_PT |
| dc.identifier.issn | 2056-7944 | |
| dc.identifier.pmid | 38942744 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10410 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Springer Nature | |
| dc.relation.hasversion | https://www.nature.com/articles/s41525-024-00417-9 | |
| dc.relation.publisherversion | https://www.nature.com/articles/s41525-024-00417-9 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.subject | LDL-cholesterol | |
| dc.subject | LDL-C | |
| dc.subject | Whole Genome Sequencing | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 36 | |
| oaire.citation.title | npj Genomic Medicine | pt_PT |
| oaire.citation.volume | 9 | pt_PT |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |