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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.
Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D; Hysi, Pirro G; Fakhro, Khalid A; Falchi, Mario.
Affiliation
  • Rossi N; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
  • Syed N; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
  • Visconti A; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
  • Aliyev E; Center for Biostatistics, Epidemiology and Public Health, Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.
  • Berry S; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
  • Bourbon M; Department of Nutritional Sciences, King's College London, London, UK.
  • Spector TD; Cardiovascular Research Group, Department of Health Promotion and Prevention of non-Communicable Diseases, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal.
  • Hysi PG; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
  • Fakhro KA; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
  • Falchi M; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
NPJ Genom Med ; 9(1): 36, 2024 Jun 28.
Article in En | MEDLINE | ID: mdl-38942744
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2024 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2024 Document type: Article Country of publication: