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.

Details

Title
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Author
Rossi, Niccolò 1 ; Syed, Najeeb 2   VIAFID ORCID Logo  ; Visconti, Alessia 3   VIAFID ORCID Logo  ; Aliyev, Elbay 2   VIAFID ORCID Logo  ; Berry, Sarah 4 ; Bourbon, Mafalda 5 ; Spector, Tim D. 1 ; Hysi, Pirro G. 1 ; Fakhro, Khalid A. 6   VIAFID ORCID Logo  ; Falchi, Mario 1 

1  King’s College London, Department of Twin Research & Genetic Epidemiology, London, UK (GRID:grid.13097.3c) (ISNI:0000 0001 2322 6764) 
2  Sidra Medical and Research Center, Department of Human Genetics, Doha, Qatar (GRID:grid.467063.0) (ISNI:0000 0004 0397 4222) 
3  King’s College London, Department of Twin Research & Genetic Epidemiology, London, UK (GRID:grid.13097.3c) (ISNI:0000 0001 2322 6764); University of Turin, Center for Biostatistics, Epidemiology and Public Health, Department of Clinical and Biological Sciences, Turin, Italy (GRID:grid.7605.4) (ISNI:0000 0001 2336 6580) 
4  King’s College London, Department of Nutritional Sciences, London, UK (GRID:grid.13097.3c) (ISNI:0000 0001 2322 6764) 
5  Instituto Nacional de Saúde Dr. Ricardo Jorge, Cardiovascular Research Group, Department of Health Promotion and Prevention of non-Communicable Diseases, Lisbon, Portugal (GRID:grid.422270.1) (ISNI:0000 0001 2287 695X) 
6  Sidra Medical and Research Center, Department of Human Genetics, Doha, Qatar (GRID:grid.467063.0) (ISNI:0000 0004 0397 4222); Weill-Cornell Medical College, Department of Genetic Medicine, Doha, Qatar (GRID:grid.416973.e) (ISNI:0000 0004 0582 4340) 
Pages
36
Publication year
2024
Publication date
2024
Publisher
Nature Publishing Group
e-ISSN
20567944
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41525-024-00417-9
ProQuest document ID
3073443113
Copyright
© The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.