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

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.

Palavras-chave

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

URI

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

Citação

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

Editora

Springer Nature

DOI

10.1038/s41525-024-00417-9

Coleções

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

Licença CC

cclicense-by

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