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The genetic abnormality in the beta cell determines the response to an oral glucose load

In English

Författare

  • A Stride
  • M Vaxillaire
  • T Tuomi
  • F Barbetti
  • PR Njolstad
  • T Hansen
  • A Costa
  • I Conget
  • O Pedersen
  • O Sovik
  • R Lorini
  • Leif Groop
  • P Froguel
  • AT Hattersley
Visa allt

Summary, in English

Aims/hypothesis. We assessed how the role of genes genetic causation in causing maturity-onset diabetes of the young (MODY) alters the response to an oral glucose tolerance test (OGTT). Methods. We studied OGTT in 362 MODY subjects, from seven European centres; 245 had glucokinase gene mutations and 117 had Hepatocyte Nuclear Factor-1 alpha (HNF-1alpha) gene mutations. Results. BMI and age were similar in the genetically defined groups. Fasting plasma glucose (FPG) was less than 5.5 mmol/l in 2% glucokinase subjects and 46% HNF-1alpha subjects (p < 0.0001). Glucokinase subjects had a higher FPG than HNF-1a subjects ([means +/- SD] 6.8 +/- 0.8 vs 6.0 +/- 1.9 mmol/l, p < 0.0001), a lower 2-h value (8.9 +/- 2.3 vs 11.2 +/- 5.2 mmol/l, p < 0.0001) and a lower OGTT increment (2-h - fasting) (2.1 +/- 2.3 vs 5.2 +/- 3.9 mmol/l, p < 0.0001). The relative proportions classified as diabetic depended on whether fasting (38% vs 22%, glucokinase vs HNF-1alpha) or 2-h values (19% vs 44%) were used. Fasting and 2-h glucose values were not correlated in the glucokinase subjects (r = -0.047, p = 0.65) but were strongly correlated in HNF-1alpha subjects (r = 0.8, p < 0.001). Insulin concentrations were higher in the glucokinase subjects throughout the OGTT. Conclusion/interpretation. The genetic cause of the beta-cell defect results in clear differences in both the fasting glucose and the response to an oral glucose load and this can help diagnostic genetic testing in MODY. OGTT results reflect not only the degree of hyperglycaemia but also the underlying cause.

Publiceringsår

2002

Språk

Engelska

Sidor

427-435

Publikation/Tidskrift/Serie

Diabetologia

Volym

45

Issue

3

Dokumenttyp

Artikel i tidskrift

Förlag

Springer

Ämne

  • Endocrinology and Diabetes

Nyckelord

  • oral glucose tolerance test
  • glucokinase
  • alpha
  • hepatocyte nuclear factor-1
  • maturity-onset diabetes of the young
  • MODY
  • genetics

Status

Published

Forskningsgrupp

  • Genomics, Diabetes and Endocrinology

ISBN/ISSN/Övrigt

  • ISSN: 1432-0428