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dc.contributor.authorJørsboe, Emil
dc.contributor.authorAndersen, Mette K.
dc.contributor.authorSkotte, Line
dc.contributor.authorStæger, Frederik F.
dc.contributor.authorFærgeman, Nils J.
dc.contributor.authorHanghøj, Kristian
dc.contributor.authorSantander, Cindy G.
dc.contributor.authorSenftleber, Ninna K.
dc.contributor.authorDiaz, Lars J.
dc.contributor.authorOvervad, Maria
dc.contributor.authorWaples, Ryan K.
dc.contributor.authorGeller, Frank
dc.contributor.authorBjerregaard, Peter
dc.contributor.authorMelbye, Mads
dc.contributor.authorLarsen, Christina V.L.
dc.contributor.authorFeenstra, Bjarke
dc.contributor.authorKoch, Anders
dc.contributor.authorJørgensen, Marit E.
dc.contributor.authorGrarup, Niels
dc.contributor.authorMoltke, Ida
dc.contributor.authorAlbrechtsen, Anders
dc.contributor.authorHansen, Torben
dc.identifier.citationHuman Genetics and Genomics Advances (HGG Advances). 2022, 3 (4), .en_US
dc.description.abstractThe 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. In a population-based Greenlandic cohort (n = 5,063), we tested for associations between the p.G137S variant and metabolic health traits as well as cardiovascular disease risk based on registry data. In addition, we explored the variant’s impact on plasma NMR measured lipoprotein concentration and composition in another Greenlandic cohort (n = 1,629); 29.5% of the individuals in the cohort carried at least one copy of the p.G137S risk allele. Furthermore, 25.4% of the heterozygous and 54.7% of the homozygous carriers had high levels (>4.9 mmol/L) of serum LDL cholesterol, which is above the diagnostic level for familial hypercholesterolemia (FH). Moreover, p.G137S was associated with an overall atherosclerotic lipid profile, and increased risk of ischemic heart disease (HR [95% CI], 1.51 [1.18–1.92], p = 0.00096), peripheral artery disease (1.69 [1.01–2.82], p = 0.046), and coronary operations (1.78 [1.21–2.62], p = 0.0035). Due to its high frequency and large effect sizes, p.G137S has a marked population-level impact, increasing the risk of FH and cardiovascular disease for up to 30% of the Greenlandic population. Thus, p.G137S is a potential marker for early intervention in Arctic populations.en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internasjonal*
dc.titleAn LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease interventionen_US
dc.title.alternativeAn LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease interventionen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.source.journalHuman Genetics and Genomics Advances (HGG Advances)en_US

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Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal
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