Back to search

Article

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease intervention

2022-01-12

Abstract excerpt

<h4>Background: </h4> The common Arctic specific LDLR p.G137S variant was recently shown to be associated with elevated lipid levels. Motivated by this we aimed to investigate the effect of p.G137S on metabolic health, and cardiovascular disease risk among Greenlanders to quantify its impact on the population. <h4>Methods:</h4> In a population based Greenlandic cohort (n=5063), we tested for associations between t...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
3304c112-9eb8-5e5b-84ae-2ab6140fe66c
DOI
10.1101/2022.01.12.22269132
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 8 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease interventionDOI 10.1101/2022.01.12.22269132
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease interventionSemantic proximity
Genome-wide association study of lipids in Greenlandic Inuit shows independent PCSK9 association and reveals a unique genetic architectureSemantic proximity
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.Semantic proximity
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.Semantic proximity
Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?Semantic proximity
Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit.Semantic proximity
Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health Study.Semantic proximity
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.Semantic proximity
Select a neighboring publication to make it the new centre.