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

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Detalhes bibliográficos
Resumo: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.
Autores principais:Rossi, Niccolò
Outros Autores:Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario
Assunto:Familial Hypercholesterolaemia Doenças Cardio e Cérebro-vasculares LDL-cholesterol LDL-C Whole Genome Sequencing
Ano:2024
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Instituto Nacional de Saúde Doutor Ricardo Jorge
Idioma:inglês
Origem:Repositório Científico do Instituto Nacional de Saúde
Descrição
Resumo: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.