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

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. In a popul...

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Detalles Bibliográficos
Autores principales: Jørsboe, Emil, Andersen, Mette K., Skotte, Line, Stæger, Frederik F., Færgeman, Nils J., Hanghøj, Kristian, Santander, Cindy G., Senftleber, Ninna K., Diaz, Lars J., Overvad, Maria, Waples, Ryan K., Geller, Frank, Bjerregaard, Peter, Melbye, Mads, Larsen, Christina V.L., Feenstra, Bjarke, Anders Koch, Jørgensen, Marit E., Grarup, Niels, Moltke, Ida, Albrechtsen, Anders, Hansen, Torben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577620/
https://www.ncbi.nlm.nih.gov/pubmed/36267056
http://dx.doi.org/10.1016/j.xhgg.2022.100118

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