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  • Thuesen, Anne Cathrine BaunSteno Diabetes Center Copenhagen (författare)

Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • Elsevier BV,2023

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:a8a92834-9632-4a08-856c-2857c6d07c2e
  • https://lup.lub.lu.se/record/a8a92834-9632-4a08-856c-2857c6d07c2eURI
  • https://doi.org/10.1016/j.ymgmr.2023.100972DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • Background: Functionally disruptive variants in the glucokinase gene (GCK) cause a form of mild non-progressive hyperglycemia, which does not require pharmacological treatment. A substantial proportion of patients with type 2 diabetes (T2D) carry GCK variants. We aimed to investigate whether carriers of rare GCK variants diagnosed with T2D have a glycemic phenotype and treatment response consistent with GCK-diabetes. Methods: Eight patients diagnosed with T2D from the Danish DD2 cohort who had previously undergone sequencing of GCK participated. Clinical examinations at baseline included an oral glucose tolerance test and continuous glucose monitoring. Carriers with a glycemic phenotype consistent with GCK-diabetes took part in a three-month treatment withdrawal. Results: Carriers of pathogenic and likely pathogenic variants had lower median fasting glucose and C-peptide levels compared to carriers of variants of uncertain significance and benign variants (median fasting glucose: 7.3 (interquartile range: 0.4) mmol/l vs. 9.5 (1.6) mmol/l, p = 0.04; median fasting C-peptide 902 (85) pmol/l vs. 1535 (295) pmol/l, p = 0.03). Four participants who discontinued metformin treatment and one diet-treated participant were reevaluated after three months. There was no deterioration of HbA1c or fasting glucose (median baseline HbA1c: 49 (3) vs. 51 (6) mmol/mol after three months, p = 0.4; median baseline fasting glucose: 7.3 (0.4) mmol/l vs. 7.0 (0.6) mmol/l after three months, p = 0.5). Participants did not consistently fulfill best practice guidelines for GCK screening nor clinical criteria for monogenic diabetes. Discussion: Carriers of pathogenic or likely pathogenic GCK variants identified by unselected screening in T2D should be reported, as they have a glycemic phenotype and treatment response consistent with GCK-diabetes. Variants of uncertain significance should be interpreted with care. Systematic genetic screening of patients with common T2D receiving routine care can lead to the identification and precise care of patients with misclassified GCK-diabetes who are not identifiable through common genetic screening criteria.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Jensen, Rasmus TanderupUniversity of Copenhagen (författare)
  • Maagensen, HenrikSteno Diabetes Center Copenhagen (författare)
  • Kristiansen, Maja RefshaugeOdense University Hospital (författare)
  • Sørensen, Henrik ToftAarhus University Hospital (författare)
  • Vaag, AllanLund University,Lunds universitet,Translationell diabetesforskning,Forskargrupper vid Lunds universitet,Translational Diabetes Research,Lund University Research Groups,Steno Diabetes Center Copenhagen(Swepub:lu)med-ava (författare)
  • Beck-Nielsen, HenningOdense University Hospital (författare)
  • Pedersen, Oluf B. (författare)
  • Grarup, Niels (författare)
  • Nielsen, Jens SteenOdense University Hospital,University of Southern Denmark (författare)
  • Rungby, JørgenSteno Diabetes Center Copenhagen,University of Copenhagen (författare)
  • Gjesing, Anette Prior (författare)
  • Storgaard, HeidiSteno Diabetes Center Copenhagen (författare)
  • Vilsbøll, TinaSteno Diabetes Center Copenhagen,University of Copenhagen (författare)
  • Hansen, TorbenUniversity of Copenhagen (författare)
  • Steno Diabetes Center CopenhagenUniversity of Copenhagen (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Molecular Genetics and Metabolism Reports: Elsevier BV352214-4269

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