Ontology highlight
ABSTRACT:
SUBMITTER: Deaton AM
PROVIDER: S-EPMC6123719 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Deaton Aimee M AM Sulem Patrick P Nioi Paul P Benonisdottir Stefania S Ward Lucas D LD Davidsson Olafur B OB Lao Socheata S Helgadottir Anna A Fan Fan F Jensson Brynjar O BO Norddahl Gudmundur L GL Jonasdottir Aslaug A Jonasdottir Adalbjorg A Sigurdsson Asgeir A Kristjansson Ragnar P RP Oddsson Asmundur A Arnadottir Gudny A GA Jonsson Hakon H Olafsson Isleifur I Eyjolfsson Gudmundur I GI Sigurdardottir Olof O Bjornsson Einar S ES Olafsson Sigurdur S Steingrimsdottir Thora T Rafnar Thorunn T Thorgeirsson Gudmundur G Masson Gisli G Thorleifsson Gudmar G Gudbjartsson Daniel F DF Holm Hilma H Thorsteinsdottir Unnur U Stefansson Kari K
Communications biology 20180208
Searching for novel sequence variants associated with cholesterol levels is of particular interest due to the causative role of non-HDL cholesterol levels in cardiovascular disease. Through whole-genome sequencing of 15,220 Icelanders and imputation of the variants identified, we discovered a rare missense variant in <i>NR1H4</i> (R436H) associating with lower levels of total cholesterol (effect = -0.47 standard deviations or -0.55 mmol L<sup>-1</sup>, <i>p</i> = 4.21 × 10<sup>-10</sup>, <i>N</i ...[more]