Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin

Nat Genet. 2016 Sep;48(9):1055-1059. doi: 10.1038/ng.3632. Epub 2016 Aug 8.

Abstract

Metformin is the first-line antidiabetic drug with over 100 million users worldwide, yet its mechanism of action remains unclear. Here the Metformin Genetics (MetGen) Consortium reports a three-stage genome-wide association study (GWAS), consisting of 13,123 participants of different ancestries. The C allele of rs8192675 in the intron of SLC2A2, which encodes the facilitated glucose transporter GLUT2, was associated with a 0.17% (P = 6.6 × 10(-14)) greater metformin-induced reduction in hemoglobin A1c (HbA1c) in 10,577 participants of European ancestry. rs8192675 was the top cis expression quantitative trait locus (cis-eQTL) for SLC2A2 in 1,226 human liver samples, suggesting a key role for hepatic GLUT2 in regulation of metformin action. Among obese individuals, C-allele homozygotes at rs8192675 had a 0.33% (3.6 mmol/mol) greater absolute HbA1c reduction than T-allele homozygotes. This was about half the effect seen with the addition of a DPP-4 inhibitor, and equated to a dose difference of 550 mg of metformin, suggesting rs8192675 as a potential biomarker for stratified medicine.

MeSH terms

  • Blood Glucose / analysis
  • Body Mass Index
  • Diabetes Mellitus, Type 2 / drug therapy
  • Diabetes Mellitus, Type 2 / genetics*
  • Genome-Wide Association Study
  • Glucose Transporter Type 2 / genetics*
  • Glycated Hemoglobin / analysis
  • Humans
  • Hypoglycemic Agents / therapeutic use*
  • Metformin / therapeutic use*
  • Polymorphism, Single Nucleotide / genetics*
  • Quantitative Trait, Heritable*
  • White People

Substances

  • Blood Glucose
  • Glucose Transporter Type 2
  • Glycated Hemoglobin A
  • Hypoglycemic Agents
  • SLC2A2 protein, human
  • hemoglobin A1c protein, human
  • Metformin

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