Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts

Autor: Mette K. Andersen, Line Skotte, Emil Jørsboe, Ryan Polito, Frederik F. Stæger, Peter Aldiss, Kristian Hanghøj, Ryan K. Waples, Cindy G. Santander, Niels Grarup, Inger K. Dahl-Petersen, Lars J. Diaz, Maria Overvad, Ninna K. Senftleber, Bolette Søborg, Christina V.L. Larsen, Clara Lemoine, Oluf Pedersen, Bjarke Feenstra, Peter Bjerregaard, Mads Melbye, Marit E. Jørgensen, Nils J. Færgeman, Anders Koch, Thomas Moritz, Matthew P. Gillum, Ida Moltke, Torben Hansen, Anders Albrechtsen

Publikováno v: Andersen, M K, Skotte, L, Jørsboe, E, Polito, R, Stæger, F F, Aldiss, P, Hanghøj, K, Waples, R K, Santander, C G, Grarup, N, Dahl-Petersen, I K, Diaz, L J, Overvad, M, Senftleber, N K, Søborg, B, Larsen, C V L, Lemoine, C, Pedersen, O, Feenstra, B, Bjerregaard, P, Melbye, M, Jørgensen, M E, Færgeman, N J, Koch, A, Moritz, T, Gillum, M P, Moltke, I, Hansen, T & Albrechtsen, A 2022, ' Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts ', Gastroenterology, vol. 162, no. 4, pp. 1171-1182.e3 . https://doi.org/10.1053/j.gastro.2021.12.236
Andersen, M K, Skotte, L, Jørsboe, E, Polito, R, Stæger, F F, Aldiss, P, Hanghøj, K, Waples, R K, Santander, C G, Grarup, N, Dahl-Petersen, I K, Diaz, L J, Overvad, M, Senftleber, N K, Søborg, B, Larsen, C V L, Lemoine, C, Pedersen, O, Feenstra, B, Bjerregaard, P, Melbye, M, Jørgensen, M E, Færgeman, N J, Koch, A, Moritz, T, Gillum, M P, Moltke, I, Hansen, T & Albrechtsen, A 2022, ' Loss of sucrase-isomaltase function increases acetate levels and improves metabolic health in Greenlandic cohorts ', Gastroenterology, vol. 162, no. 4, pp. 1171-1182.e3 . https://doi.org/10.1053/j.gastro.2021.12.236

BACKGROUND & AIMS: The sucrase-isomaltase (SI) c.273_274delAG loss-of-function variant is common in Arctic populations and causes congenital sucrase-isomaltase deficiency, which is an inability to break down and absorb sucrose and isomaltose. Childre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af598bb6586cd15c453ff65560389ba
https://findresearcher.sdu.dk:8443/ws/files/202400420/PIIS0016508521040658.pdf

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

Autor: Emil Jørsboe, Mette K. Andersen, Line Skotte, Frederik F. Stæger, Nils J. Færgeman, Kristian Hanghøj, Cindy G. Santander, Ninna K. Senftleber, Lars J. Diaz, Maria Overvad, Ryan K. Waples, Frank Geller, Peter Bjerregaard, Mads Melbye, Christina V.L. Larsen, Bjarke Feenstra, null Anders Koch, Marit E. Jørgensen, Niels Grarup, Ida Moltke, Anders Albrechtsen, Torben Hansen

Publikováno v: Jørsboe, E, Andersen, M K, Skotte, L, Stæger, F F, Færgeman, N J, Hanghøj, K, Santander, C G, Senftleber, N K, Diaz, L J, Overvad, M, Waples, R K, Geller, F, Bjerregaard, P, Melbye, M, Larsen, C V L, Feenstra, B, Anders Koch, K, Jørgensen, M E, Grarup, N, Moltke, I, Albrechtsen, A & Hansen, T 2022, ' An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100118 . https://doi.org/10.1016/j.xhgg.2022.100118
Human Genetics and Genomics Advances (HGG Advances)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810ce420bbc3628efd09f48eb36dc65e
https://doi.org/10.1016/j.xhgg.2022.100118