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

• Author(s): Rossi, Niccolò ; Syed, Najeeb ; Visconti, Alessia ; Aliyev, Elbay ; Berry, Sarah ; Bourbon, Mafalda ; Spector, Tim D. ; Hysi, Pirro G. ; Fakhro, Khalid A. ; Falchi, Mario
• Date: 2024
• Persistent ID: http://hdl.handle.net/10400.18/10410
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial Hypercholesterolaemia; Doenças Cardio e Cérebro-vasculares; LDL-cholesterol; LDL-C; Whole Genome Sequencing
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

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.