npj Genomic Medicine (Jun 2024)

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

  • Niccolò Rossi,
  • Najeeb Syed,
  • Alessia Visconti,
  • Elbay Aliyev,
  • Sarah Berry,
  • Mafalda Bourbon,
  • Tim D. Spector,
  • Pirro G. Hysi,
  • Khalid A. Fakhro,
  • Mario Falchi

DOI
https://doi.org/10.1038/s41525-024-00417-9
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 6

Abstract

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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.