Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2678-2689. doi: 10.1210/jc.2016-3429.

Abstract

Context: Variation in genes that cause maturity-onset diabetes of the young (MODY) has been associated with diabetes incidence and glycemic traits.

Objectives: This study aimed to determine whether genetic variation in MODY genes leads to differential responses to insulin-sensitizing interventions.

Design and setting: This was a secondary analysis of a multicenter, randomized clinical trial, the Diabetes Prevention Program (DPP), involving 27 US academic institutions. We genotyped 22 missense and 221 common variants in the MODY-causing genes in the participants in the DPP.

Participants and interventions: The study included 2806 genotyped DPP participants randomized to receive intensive lifestyle intervention (n = 935), metformin (n = 927), or placebo (n = 944).

Main outcome measures: Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year β-cell function, insulinogenic index, and oral disposition index. Analyses were stratified by treatment group for significant single-nucleotide polymorphism × treatment interaction (Pint < 0.05). Sequence kernel association tests examined the association between an aggregate of rare missense variants and insulinogenic traits.

Results: After 1 year, the minor allele of rs3212185 (HNF4A) was associated with improved β-cell function in the metformin and lifestyle groups but not the placebo group; the minor allele of rs6719578 (NEUROD1) was associated with an increase in insulin secretion in the metformin group but not in the placebo and lifestyle groups.

Conclusions: These results provide evidence that genetic variation among MODY genes may influence response to insulin-sensitizing interventions.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / prevention & control
  • Exercise Therapy*
  • Genetic Variation
  • Glucokinase / genetics
  • Hepatocyte Nuclear Factor 1-alpha / genetics
  • Hepatocyte Nuclear Factor 1-beta / genetics
  • Hepatocyte Nuclear Factor 4 / genetics*
  • Homeodomain Proteins / genetics
  • Humans
  • Metformin / therapeutic use
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • Risk Reduction Behavior
  • Trans-Activators / genetics
  • Treatment Outcome
  • Weight Reduction Programs*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • HNF1A protein, human
  • HNF1B protein, human
  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Hepatocyte Nuclear Factor 4
  • Homeodomain Proteins
  • NEUROD1 protein, human
  • Trans-Activators
  • pancreatic and duodenal homeobox 1 protein
  • Hepatocyte Nuclear Factor 1-beta
  • Metformin
  • Glucokinase

Supplementary concepts

  • MODY, Type 6
  • Maturity-Onset Diabetes of the Young, Type 1
  • Maturity-Onset Diabetes of the Young, Type 2
  • Maturity-Onset Diabetes of the Young, Type 3
  • Maturity-Onset Diabetes of the Young, Type 4