Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function
Background: Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is ch...
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2024
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Online Access: | https://portal.findresearcher.sdu.dk/da/publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 https://doi.org/10.2147/TACG.S437484 https://findresearcher.sdu.dk/ws/files/257041726/TACG-437484-healthcare-burden-in-greenland-of-gastrointestinal-symptoms-.pdf |
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ftsydanskunivpub:oai:sdu.dk:publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 2024-09-15T18:09:40+00:00 Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function Andersen, Kristine Hansen, Torben Jørgensen, Marit Eika Senftleber, Ninna 2024 application/pdf https://portal.findresearcher.sdu.dk/da/publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 https://doi.org/10.2147/TACG.S437484 https://findresearcher.sdu.dk/ws/files/257041726/TACG-437484-healthcare-burden-in-greenland-of-gastrointestinal-symptoms-.pdf eng eng https://portal.findresearcher.sdu.dk/da/publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 info:eu-repo/semantics/openAccess Andersen , K , Hansen , T , Jørgensen , M E & Senftleber , N 2024 , ' Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function ' , Application of Clinical Genetics , vol. 17 , pp. 15-21 . https://doi.org/10.2147/TACG.S437484 congenital sucrase-isomaltase deficiency genetic metabolism Greenland Inuit loss-of-function variant sucrase-isomaltase article 2024 ftsydanskunivpub https://doi.org/10.2147/TACG.S437484 2024-08-05T23:48:16Z Background: Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is characterized by gastrointestinal symptoms such as stomachache, diarrhea, and weight loss when consuming sucrose, the most common dietary sugar. However, the awareness of the condition in the population and the healthcare system seems to be limited, potentially leading to a higher healthcare burden. Hence, we aimed to investigate whether HO-carriers visit the healthcare system more with gastrointestinal symptoms compared to the control groups by using registry data. Methods: We performed a case-control study identifying cases and controls using genotype information from the 1999-2001 and 2005-2010 Greenlandic health population cohorts. The cases were defined as HO LoF SI-carriers and controls were defined as non-carriers and were matched (1:1) on sex, age, place of residence, and European genetic admixture. We used electronic medical records to assess the number of electronic medical record contacts (EMRc) related to gastrointestinal symptoms and the number of gastrointestinal-related diagnostic procedures. Results: A total of 80 HO-carriers and 80 non-carriers were included. The HO-carriers had 19% more EMRc related to gastrointestinal symptoms (IRR, 1.19, 95% CI [1.02;1.40], p=0.02) and had a 41% higher incidence of gastrointestinal related diagnostic procedures compared to controls (IRR, 1.41, 95% CI [1.05-1.92], p=0.02). Only one HO-carrier was aware of the condition according to the electronic medical records. Conclusion: HO-carriers of the LoF SI-variant had both significantly more gastrointestinal-related EMRc and significantly more diagnostic procedures conducted due to gastrointestinal symptoms. Only one HO-carrier was aware of the condition. Given the high prevalence of HO-carriers in the Greenlandic ... Article in Journal/Newspaper Greenland greenlandic inuit University of Southern Denmark Research Portal The Application of Clinical Genetics Volume 17 15 21 |
institution |
Open Polar |
collection |
University of Southern Denmark Research Portal |
op_collection_id |
ftsydanskunivpub |
language |
English |
topic |
congenital sucrase-isomaltase deficiency genetic metabolism Greenland Inuit loss-of-function variant sucrase-isomaltase |
spellingShingle |
congenital sucrase-isomaltase deficiency genetic metabolism Greenland Inuit loss-of-function variant sucrase-isomaltase Andersen, Kristine Hansen, Torben Jørgensen, Marit Eika Senftleber, Ninna Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
topic_facet |
congenital sucrase-isomaltase deficiency genetic metabolism Greenland Inuit loss-of-function variant sucrase-isomaltase |
description |
Background: Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is characterized by gastrointestinal symptoms such as stomachache, diarrhea, and weight loss when consuming sucrose, the most common dietary sugar. However, the awareness of the condition in the population and the healthcare system seems to be limited, potentially leading to a higher healthcare burden. Hence, we aimed to investigate whether HO-carriers visit the healthcare system more with gastrointestinal symptoms compared to the control groups by using registry data. Methods: We performed a case-control study identifying cases and controls using genotype information from the 1999-2001 and 2005-2010 Greenlandic health population cohorts. The cases were defined as HO LoF SI-carriers and controls were defined as non-carriers and were matched (1:1) on sex, age, place of residence, and European genetic admixture. We used electronic medical records to assess the number of electronic medical record contacts (EMRc) related to gastrointestinal symptoms and the number of gastrointestinal-related diagnostic procedures. Results: A total of 80 HO-carriers and 80 non-carriers were included. The HO-carriers had 19% more EMRc related to gastrointestinal symptoms (IRR, 1.19, 95% CI [1.02;1.40], p=0.02) and had a 41% higher incidence of gastrointestinal related diagnostic procedures compared to controls (IRR, 1.41, 95% CI [1.05-1.92], p=0.02). Only one HO-carrier was aware of the condition according to the electronic medical records. Conclusion: HO-carriers of the LoF SI-variant had both significantly more gastrointestinal-related EMRc and significantly more diagnostic procedures conducted due to gastrointestinal symptoms. Only one HO-carrier was aware of the condition. Given the high prevalence of HO-carriers in the Greenlandic ... |
format |
Article in Journal/Newspaper |
author |
Andersen, Kristine Hansen, Torben Jørgensen, Marit Eika Senftleber, Ninna |
author_facet |
Andersen, Kristine Hansen, Torben Jørgensen, Marit Eika Senftleber, Ninna |
author_sort |
Andersen, Kristine |
title |
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
title_short |
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
title_full |
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
title_fullStr |
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
title_full_unstemmed |
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function |
title_sort |
healthcare burden in greenland of gastrointestinal symptoms in adults with inherited loss of sucrase-isomaltase function |
publishDate |
2024 |
url |
https://portal.findresearcher.sdu.dk/da/publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 https://doi.org/10.2147/TACG.S437484 https://findresearcher.sdu.dk/ws/files/257041726/TACG-437484-healthcare-burden-in-greenland-of-gastrointestinal-symptoms-.pdf |
genre |
Greenland greenlandic inuit |
genre_facet |
Greenland greenlandic inuit |
op_source |
Andersen , K , Hansen , T , Jørgensen , M E & Senftleber , N 2024 , ' Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function ' , Application of Clinical Genetics , vol. 17 , pp. 15-21 . https://doi.org/10.2147/TACG.S437484 |
op_relation |
https://portal.findresearcher.sdu.dk/da/publications/bbbed78e-097c-40df-9bb1-2cb3e31e36c5 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.2147/TACG.S437484 |
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The Application of Clinical Genetics |
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Volume 17 |
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1810447253349859328 |