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:10.1038/s41525-024-00417-9

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	36
Pages (from-to)	36
Journal	NPJ Genomic medicine
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41525-024-00417-9
Publication status	Published - 28 Jun 2024

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10.1038/s41525-024-00417-9

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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.",

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AU - Rossi, Niccolò

AU - Syed, Najeeb

AU - Visconti, Alessia

AU - Aliyev, Elbay

AU - Berry, Sarah

AU - Bourbon, Mafalda

AU - Spector, Tim D

AU - Hysi, Pirro G

AU - Fakhro, Khalid A

AU - Falchi, Mario

PY - 2024/6/28

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AB - 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.

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ER -

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

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