Evidence mapPaperPMID 36994449Full record

ReviewThe application of clinical genetics2023

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.

Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jørgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen

Open access · goldAbstract readReview
In one paragraph

Review in The application of clinical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
4.7field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 15 citations in OpenAlex.

  1. Trial
  2. Article
  3. Genetic determinants of plasma lipids in Greenlanders.Current opinion in lipidology · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 2 countries.

Ninna Karsbæk Senftleber *Clinical Research, Copenhagen University Hospital - Steno Diabetes Center Copenhagen, Herlev, Denmark.ORCID 0000-0001-6619-1549
Stina Ramne *Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-1291-4494
Ida MoltkeSection for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-7052-8554
Marit Eika JørgensenClinical Research, Copenhagen University Hospital - Steno Diabetes Center Copenhagen, Herlev, Denmark.ORCID 0000-0001-8356-5565
Anders AlbrechtsenSection for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-7306-031X
Torben HansenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-8748-3831
Mette K AndersenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-8227-1469
University of Copenhagen · DKSteno Diabetes Centers · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, except the Arctic-specific c.273_274delAG loss-of-function (LoF) variant, which is common in the Greenlandic Inuit and other Arctic populations. In these populations, it is, therefore, possible to study people with loss of SI function in an unbiased way to elucidate the physiological function of SI, and investigate both short-term and long-term health effects of reduced small intestinal digestion of sucrose and starch. Importantly, a recent study of the LoF variant in Greenlanders reported that adult homozygous carriers have a markedly healthier metabolic profile. These findings indicate that SI inhibition could potentially improve metabolic health also in individuals not carrying the LoF variant, which is of great interest considering the massive number of individuals with obesity and type 2 diabetes worldwide. Therefore, the objectives of this review, are 1) to describe the biological role of SI, 2) to describe the metabolic impact of the Arctic

Indexed as

cardiometabolic healthcongenital sucrase-isomaltase deficiencyGreenlandInuitloss-of-function variantssucrase-isomaltasesucrose

Identifiers

PMID36994449
PMCPMC10041990
OpenAlexW4360615761

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.