Impact of organic anion transporting polypeptide, P-glycoprotein, and breast cancer resistance protein transporters on observed tamoxifen and endoxifen concentration and adverse effects
Conclusions We showed that OATP1A2, a transporter known to be expressed at the blood-brain barrier, is capable of tamoxifen transport. Additionally, OATP1A2 c.38A>G was associated with reduced ADRs. Taken together, our findings suggest genetic variation in OATP transporters may be an important predictor of tamoxifen ADRs. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 2, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

MiRNA-139-3p inhibits malignant progression in urothelial carcinoma of the bladder via targeting KIF18B and inactivating Wnt/beta-catenin pathway
Conclusion MiRNA-139-3p/KIF18B/Wnt/β-catenin could significantly inhibit the malignant progression of BUC, and its targeting mechanism might provide an effective therapeutic target for BUC patients. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 2, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Body weight changes and bipolar disorder: a molecular pathway analysis
Discussion Pathways that are central in energy homeostasis may play a role to separate individuals with BD that will experience weight changes during treatment from those who will not. If confirmed, such finding can be instrumental in the identification of the correct preventive strategies and most correct treatment to increase compliance and efficacy in the treatment of BD. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 31, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Influence of ABCB1, CYP3A5 and CYP3A4 gene polymorphisms on prothrombin time and the residual equilibrium concentration of rivaroxaban in patients with non-valvular atrial fibrillation in real clinical practice
Conclusion Patients with ABCB1 rs4148738 CT genotype have a statistically significantly higher residual equilibrium concentration of rivaroxaban in blood than patients with ABCB1 rs4148738 CC genotype, which should be considered when assessing the risk of hemorrhagic complications and risk of drug–drug interactions. Further studies of the effect of rivaroxaban pharmacogenetics on the safety profile and efficacy of therapy are needed. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 31, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Proximal tubular dysfunction related to tenofovir in people living with HIV/AIDS: a pharmacogenetic study
Conclusions The results indicate an important relationship between SNPs associated with these markers and changes in proximal renal tubule function, and thus support their use as biomarkers for the early detection of PRTD risk. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 31, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Influence of MDR1 gene polymorphism (2677G>T) on expression and function of P-glycoprotein at the blood-brain barrier: utilizing novel P-glycoprotein humanized mice with mutation
P-glycoprotein, the encoded product of the MDR1/ABCB1 gene in humans, is expressed in numerous tissues including brain capillary endothelial cells and restricts the distribution of xenobiotics into the brain as an efflux pump. Although a large number of single nucleotide polymorphisms in the MDR1 gene have been identified, the influence of the nonsynonymous 2677G>T/A single nucleotide polymorphism on P-glycoprotein at the blood-brain barrier has remained unclear. In the present study, we developed a novel P-glycoprotein humanized mouse line carrying the 2677G>T mutation by utilizing a mouse artificial chromosome vector con...
Source: Pharmacogenetics and Genomics - September 18, 2022 Category: Genetics & Stem Cells Tags: Short Communication Source Type: research

Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics
Conclusion: The minor allele of rs10421558 A>G in the 5′UTR may protect against the development of AERD via the increased production of ATP8B3. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - September 18, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Attitudes on pharmacogenomic results as secondary findings among medical geneticists
Conclusions The majority of participants agreed that adding certain actionable pharmacogenomic genes to the American College of Medical Genetics and Genomics SF list is reasonable; however, this was qualified with a need for additional resources to support implementation. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - September 18, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Investigation of pharmacologic interactions between omeprazole and tacrolimus in a membranous nephropathy patient with CYP3A5 nonexpresser: a case report
This study shows that tacrolimus and omeprazole have pharmacologic drug interactions in CYP3A5 nonexpressers, implying that the CYP3A and ABCB1 gene mutations linked to tacrolimus metabolism may alter tacrolimus levels in the blood. The observed concentrations of tacrolimus were decreased after the discontinuation of omeprazole therapy. It demonstrates that, in addition to genotype, clinical covariates, such as omeprazole are important when it comes to better understanding and prediction of tacrolimus dosage. It is deemed necessary to monitor tacrolimus blood concentrations and make dose adjustments when patients were coad...
Source: Pharmacogenetics and Genomics - August 18, 2022 Category: Genetics & Stem Cells Tags: Short Communication Source Type: research

Impact of cytochrome P450 2C19 polymorphisms on the clinical efficacy and safety of voriconazole: an update systematic review and meta-analysis
Conclusion IMs and PMs were at a significant higher success rate in comparison with NMs. PMs were significantly associated with an increased incidence of all adverse events compared with NMs and IMs. Researches are expected to further confirm these findings. Additionally, the relationship between hepatotoxicity and CYP2C19 polymorphisms deserves clinical attention. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - August 18, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Association of anti-TNF-α treatment with gut microbiota of patients with ankylosing spondylitis
Conclusions Microbiota dysbiosis in ankylosing spondylitis patients can be restored after anti-TNF-α treatment, possibly by impacting SCFA-producing bacteria. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - August 18, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Cancer genomic medicine in Japan and the roles of pharmacists
Cancer genomic medicine (CGM) is a medical service that provides optimized treatment for each patient based on genes, biomarkers, environment, and lifestyle. In Japan, the approval of designed core hospitals for CGM started in 2017. In June 2019, two types of cancer gene panel tests became available in the national health insurance system, and CGM was socially implemented. While CGM is still in its infancy and there are some issues that need to be resolved, there are cases where the treatment has shown dramatic results. The present review highlights the CGM system in Japan, the issues it faces, and the role of pharmacists ...
Source: Pharmacogenetics and Genomics - July 24, 2022 Category: Genetics & Stem Cells Tags: Mini Review Source Type: research

Pharmacogenetic analysis of canonical versus noncanonical pathway of NF-kB in Crohn’s disease patients under anti-tumor necrosis factor-α treatment
Conclusion Our results suggest that polymorphisms in the canonical NF-kB pathway genes could potentially act as a predictive biomarker of anti-TNFα response in CD. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - July 24, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Genome-wide DNA methylation profile of peripheral blood lymphocytes from subjects with nonsteroidal anti-inflammatory drug-induced respiratory diseases
Conclusion PBLs in NERD form a unique pattern of DNA CpG methylation, and the combined analysis may provide predictive values for NERD. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - July 24, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Influence of CYP2B6 and CYP3A4 polymorphisms on the virologic and immunologic responses of patients treated with efavirenz-containing regimen
Conclusion Our findings support the fact that CYP2B6 rs2279343 could help in the prediction of VLS and both SNPs rs3745274 and rs2279343 in CYP2B6 and CYP3A4 rs2740574 were associated with immune recovery in Malian HIV-positive patients. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - July 24, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research