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

http://hdl.handle.net/10400.18/10410

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
MBourbon_RareVar_KCNJ2.pdf		3.2 MB	Adobe PDF	Download

Authors

Rossi, Niccolò

Visconti, Alessia

Bourbon, Mafalda

Spector, Tim D.

Fakhro, Khalid A.

Abstract(s)

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.

Keywords

Familial Hypercholesterolaemia LDL-cholesterol LDL-C Whole Genome Sequencing Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/10410

Citation

NPJ Genom Med. 2024 Jun 28;9(1):36. doi: 10.1038/s41525-024-00417-9

Publisher

Springer Nature

DOI

10.1038/s41525-024-00417-9

Collections

DPSPDNT - Artigos em revistas internacionais
INSA - Artigos em revistas internacionais

CC License

Altmetrics