Review
Pharmacogenetics in type 2 diabetes: potential implications for clinical practice
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* Corresponding author: Jose C Florez jcflorez@partners.org
1 Renal Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
2 Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building, Boston, MA 02114, USA
3 Department of Medicine, Harvard Medical School, Boston, MA 02115, USA
4 Diabetes Research Center (Diabetes Unit), Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
5 Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA
Genome Medicine 2011, 3:76 doi:10.1186/gm292
Published: 29 November 2011Abstract
Pharmacogenetic research aims to study how genetic variation may influence drug efficacy and/or toxicity; pharmacogenomics expands this quest to the entire genome. Pharmacogenetic findings may help to uncover new drug targets, illuminate pathophysiology, clarify disease heterogeneity, aid in the fine-mapping of genetic associations, and contribute to personalized treatment. In diabetes, there is precedent for the successful application of pharmacogenetic concepts to monogenic forms of the disease, such as maturity onset diabetes of the young or neonatal diabetes. Whether similar insights will be produced for the common form of type 2 diabetes remains to be seen. With recent advances in genetic approaches, the successive application of candidate gene studies, large-scale genotyping studies and genome-wide association studies has begun to generate suggestive results that may lead to changes in clinical practice. However, many potential barriers to the translation of pharmacogenetic discoveries to the clinical management of diabetes still remain. Here, we offer a contemporary overview of the field in its current state, identify potential obstacles, and highlight future directions.