Rossi, NiccolòSyed, NajeebVisconti, AlessiaAliyev, ElbayBerry, SarahBourbon, MafaldaSpector, Tim D.Hysi, Pirro G.Fakhro, Khalid A.Falchi, Mario2025-03-052025-03-052024-06-28NPJ Genom Med. 2024 Jun 28;9(1):36. doi: 10.1038/s41525-024-00417-92056-7944http://hdl.handle.net/10400.18/10410Leveraging 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.engFamilial HypercholesterolaemiaLDL-cholesterolLDL-CWhole Genome SequencingDoenças Cardio e Cérebro-vascularesjournal article10.1038/s41525-024-00417-938942744