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GCKR : How genetic variation across the allelic spectrum influences protein function and metabolic traits in humans

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Author

Summary, in English

Genome-wide association studies (GWAS) have generated considerable interest in glucokinase regulatory protein (GKRP; gene name GCKR) which is an inhibitor of hepatic glucokinase (GCK), an enzyme that plays a critical role in glucose update and disposal in liver. From the initial discovery of GCKR variants associated with triglyceride and glucose levels through the identification of pleiotropic associations with a wide variety of metabolic phenotypes, we have learned a great deal about the importance of GKRP as a critical node in hepatic metabolism. GKRP remains one of the few well-studied GWAS loci where attempts have been made to understand the functional as well as the phenotypic impact of genetic variants across the allelic spectrum. Given the interest in developing liver-specific glucokinase activators and small molecules which disrupt the GKRP:GCK interaction for the treatment of type 2 diabetes, these genetic insights provide a wealth of information regarding efficacy and potential adverse on-target effects in humans.

Publishing year

2016-01-01

Language

English

Pages

317-336

Publication/Series

The Genetics of Type 2 Diabetes and Related Traits: Biology, Physiology and Translation

Document type

Book chapter

Publisher

Springer International Publishing

Topic

  • Medical Genetics

Status

Published

Research group

  • Diabetes - Cardiovascular Disease

ISBN/ISSN/Other

  • ISBN: 9783319015743
  • ISBN: 9783319015736