Our latest publications
Here are our latest publications related to pharmacogenetics
Bortezomib Pharmacogenetic Biomarkers for the Treatment of Multiple Myeloma: Review and Future Perspectives
Multiple Myeloma is a hematological neoplasm treated with chemotherapy, often including the proteasome inhibitor bortezomib. Response and adverse drug reactions vary and interindividual variation in pharmacogenetic biomarkers may be to blame. This review summarizes all relevant pharmacogenetic information for MM treatment with bortezomib and suggests examining possible biomarkers that would affect occurrence of adverse effects and bortezomib toxicity.
Identification of Transporter Polymorphisms Influencing Metformin Pharmacokinetics in Healthy Volunteers
Metformin is the most prescribed drug for Type 2 diabetes, but its pharmacological response varies widely among individuals. A study conducted on healthy participants found age, sex, ethnic and polymorphisms in transporters affected metformin’s pharmacokinetic parameters, demonstrating a multifactorial approach to patient characteristics is necessary for better individualization of the drug.
Pharmacogenetics in the Treatment of Huntington's Disease: Review and Future Perspectives
Huntington's disease (HD) is an autosomal dominant progressive brain disorder characterized by cognitive, motor, and neuropsychiatric manifestations. Symptomatic treatment addresses the motor disorders and cognitive, neuropsychiatric disturbances. Pharmacogenetic studies aim to predict effective treatment response and prevent undesirable effects of drug administration. A review of available pharmacogenetic information on HD will optimize drug administration. Further research is needed to ensure pharmacogenetic clinical use is feasible and applicable to HD patients.
Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington's disease
In this study, the relationship between oxytocin receptor (OXTR) polymorphisms and social cognition in Huntington's disease (HD) was investigated. Ten variants in OXTR were identified, and the study found that variations in OXTR might play a relevant role in the development of social and cognitive functions. Further molecular studies are needed to confirm their pathogenicity and the influence of the identified variants on irritability and social cognition in HD.
Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives
This study aims to review the available publications and evidence related to the pharmacogenetics of acute myeloid leukemia (AML). Although plenteous pharmacogenetic studies are available, most have limitations. Evidence points to the relevance of genetic polymorphisms in response to treatment, including increased drug efficacy and toxicity, decreased response, or resistance to treatment. A broad pharmacogenetic understanding may optimize drug administration for AML.
Consensus of experts from the Spanish Pharmacogenetics and Pharmacogenomics Society and the Spanish Society of Medical Oncology for the genotyping of DPYD in cancer patients who are candidates for treatment with fluoropyrimidines
The administration of 5-fluorouracil (5-FU) and oral fluoropyrimidines, such as capecitabine, in cancer treatment can cause serious and even lethal toxicity related to dihydropyrimidine dehydrogenase (DPD) deficiency. Before administering these drugs, it is advisable to genotype DPYD gene polymorphisms to establish clear recommendations for implementation of genotype and/or phenotype testing for DPD deficiency. This consensus established recommendations for the classification of individuals as normal, intermediate or poor metabolizers and necessary dosing adjustments.
