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Personalized medicine in sarcoidosis: predict responders and nonresponders
1Department of Pathological Physiology (Laboratory of Immunogenomics), Faculty of Medicine, Dentistry, Palacký University Olomouc, the Czech Republic.
Purpose Of Review:
Treatment of sarcoidosis, a granulomatous disease affecting multiple organs with predominance to the lung, is complicated by variable response of individual patients to treatment options ranging from corticosteroids to second-line steroid-sparing agents and further to biologicals. This is partially because of varying disease manifestation, but polymorphic genes affecting drug metabolization substantially contribute. This review deals with pharmacogenetic (PGx) factors underlying interindividual differences of treatment response in sarcoidosis regarding personalized approach to patient management.
Recent Findings:
No firm evidence is available for introducing genotyping metabolizing enzymes and/or transporters (Cytochrome P450, TPMT, ABCB1 and so on) despite drugs they target (azathioprine and methotrexate) are used in sarcoidosis. Variation in TNFA gene, which was associated with response to tumor necrosis factor inhibitors (infliximab and adalimumab), is in line with plausible pathomechanisms; however, clinical utility should be confirmed. No PGx data have been yet reported in sarcoidosis for other biologicals (ustekinumab and rituximab). Extending to pharmacogenomics, further possibility for predicting sarcoidosis treatment response is represented by molecular (mRNA and miRNA) profiling at (post)transcriptional level.
Summary:
Before PGx tests predicting treatment response are clinically utilized, information on genetic variation should be included in ongoing/new clinical trials, design of which should reflect needs to address relevance of testing gene variants either alone or in combination with other, that is genomic biomarkers. Attention must also be paid to predictors of adverse drug reactions, and possible ethnic or sex differences in individual treatment response should not be neglected. With this future complex information, we will be able to nominate genetic/genomic markers to provide additional level of guidance for selecting appropriate medication, drug combination(s) and dosage.
Insights
Pharmacogenetics (PGx) can personalize sarcoidosis treatment by analyzing genetic variations that influence drug response. While current evidence for routine PGx testing is limited, future research may guide tailored medication choices.
Area of Science:
- Pharmacogenetics
- Genomics
- Immunology
Background:
- Sarcoidosis treatment response varies significantly among patients.
- Genetic factors, particularly those affecting drug metabolism and immune response, contribute to this variability.
- Personalized medicine approaches are needed to optimize sarcoidosis management.
Purpose of the Study:
- To review pharmacogenetic (PGx) factors influencing interindividual treatment response in sarcoidosis.
- To explore the potential of PGx for a personalized approach to sarcoidosis patient management.
Main Methods:
- Review of current literature on pharmacogenetic factors in sarcoidosis treatment.
- Analysis of gene variations related to drug metabolism (e.g., Cytochrome P450, TPMT, ABCB1) and immune response (e.g., TNFA).
- Consideration of pharmacogenomic approaches like mRNA and miRNA profiling.
Main Results:
- Limited evidence supports routine genotyping for metabolizing enzymes and transporters in sarcoidosis.
- TNFA gene variations show potential association with response to TNF inhibitors, but clinical utility requires confirmation.
- No PGx data exist for newer biologics like ustekinumab and rituximab.
Conclusions:
- Clinical utility of PGx tests for sarcoidosis treatment response needs further validation in clinical trials.
- Future research should integrate genetic variation testing with genomic biomarkers and consider adverse drug reaction predictors.
- Addressing ethnic and sex differences in treatment response is crucial for developing comprehensive personalized medicine strategies in sarcoidosis.
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