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Understanding the genetic basis for adverse drug effects: the calcineurin inhibitors
Jane P F Bai1, Lawrence J Lesko, Gilbert J Burckart
1Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, United States Food and Drug Administration, Silver Spring, Maryland, USA.
Abstract:
The calcineurin inhibitors-cyclosporine and tacrolimus-are the mainstay of immunosuppressive therapy in solid organ transplantation. These drugs produce severe adverse drug effects (ADEs) such as nephrotoxicity, posttransplantation diabetes mellitus, and hypertension. Accumulated evidence suggests that the development of type 2 diabetes, hypertension, and renal failure may be associated with specific DNA genotypes. In this review, the genes involved with the development of these disease processes are compared with those implicated in calcineurin inhibitor-induced ADEs. The renin-angiotensin system genes, cytokine-encoding genes, and plasminogen activator inhibitor type 1 genes have been implicated in calcineurin inhibitor-induced nephrotoxicity, as well as in development of renal failure. A number of genes are implicated in contributing to diabetes, and these include the vitamin D receptor gene, VDR; hepatocyte nuclear factor genes, HNF; transcription factor 7-like 2 gene, TCF7L2; angiotensin-converting enzyme gene, ACE; cytokines; peroxisome proliferator-activated receptor gamma gene, PPARG; and others. Studies have suggested that the VDR, PPARG, HNF1A, and adenosine 5'-triphosphate-binding cassette ABCC8 (which encodes the sulfonylurea receptor) genes are associated with calcineurin inhibitor-induced diabetes. The genes encoding for the angiotensin-converting enzyme, endothelial constitutive nitric oxide synthase, and cytochrome P450 3A isoenzyme have been involved in the development of hypertension and in calcineurin inhibitor-induced hypertension. The genetic study of disease states can be the stepping stones for thoroughly understanding the genetic basis of ADEs. Gene polymorphisms are implicated in the development of diseases and corresponding disease-like ADEs. The disease-associated genes provide candidate genes for exploring ADEs and may provide genomic biomarkers for assessing the risk for developing severe calcineurin inhibitor-related ADEs as well as for developing preventive strategies.
Insights
Calcineurin inhibitors cause adverse drug effects like nephrotoxicity and diabetes. Gene variations linked to these diseases may predict transplant patients
Area of Science:
- Pharmacogenomics and Transplantation Immunology
Background:
- Calcineurin inhibitors (cyclosporine, tacrolimus) are vital immunosuppressants in solid organ transplantation.
- These drugs are associated with severe adverse drug effects (ADEs), including nephrotoxicity, posttransplantation diabetes mellitus, and hypertension.
- Growing evidence links specific DNA genotypes to the development of type 2 diabetes, hypertension, and renal failure.
Purpose of the Study:
- To review and compare genes involved in common disease processes (diabetes, hypertension, renal failure) with those implicated in calcineurin inhibitor-induced ADEs.
- To explore the potential of disease-associated genes as genomic biomarkers for predicting and preventing calcineurin inhibitor-related ADEs.
Main Methods:
- Literature review comparing genetic associations of type 2 diabetes, hypertension, and renal failure with calcineurin inhibitor-induced ADEs.
- Identification of candidate genes implicated in both disease development and drug-induced toxicity.
Main Results:
- Renin-angiotensin system, cytokine, and plasminogen activator inhibitor type 1 genes are linked to calcineurin inhibitor-induced nephrotoxicity and renal failure.
- Genes such as VDR, HNF, TCF7L2, ACE, PPARG, and ABCC8 are associated with calcineurin inhibitor-induced diabetes.
- ACE, endothelial constitutive nitric oxide synthase, and CYP3A genes are implicated in calcineurin inhibitor-induced hypertension.
Conclusions:
- Gene polymorphisms play a role in the development of both common diseases and similar drug-induced adverse effects.
- Disease-associated genes serve as valuable candidates for investigating calcineurin inhibitor-induced ADEs.
- Identifying these genetic biomarkers can aid in assessing patient risk and developing personalized preventive strategies for adverse drug reactions.
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