A5004962263- Pharmacogenetics and Drug Metabolism
- Drug Transport and Resistance Mechanisms
- Pharmacological Effects and Toxicity Studies
- Genetic Associations and Epidemiology
- Renal cell carcinoma treatment
- Smoking Behavior and Cessation
- Renal Transplantation Outcomes and Treatments
- Epilepsy research and treatment
- Drug-Induced Hepatotoxicity and Protection
- Urticaria and Related Conditions
- Receptor Mechanisms and Signaling
- Renal and related cancers
- Drug-Induced Adverse Reactions
- Genomics and Rare Diseases
- Influenza Virus Research Studies
- Colorectal Cancer Treatments and Studies
- Bioinformatics and Genomic Networks
- Autoimmune Bullous Skin Diseases
- Asthma and respiratory diseases
- Liver Disease Diagnosis and Treatment
- Renal function and acid-base balance
- Immune Cell Function and Interaction
- Cardiovascular Conditions and Treatments
- Amino Acid Enzymes and Metabolism
- Natural Compound Pharmacology Studies
RIKEN Center for Integrative Medical Sciences
2016-2025
National Institute of Health Sciences
2023-2024
Azabu University
2008-2018
RIKEN
2014
Kochi Medical School Hospital
2011
Bovine leukemia virus (BLV) is the causative agent of enzootic bovine leucosis. However, less than 5% BLV-infected cattle will develop lymphoma, suggesting that, in addition to viral infection, host genetic polymorphisms might play a role disease susceptibility. leukocyte antigen (BoLA)-DRB3 highly polymorphic gene associated with BLV proviral load (PVL) Due fact that PVL positively progression, it believed controlling can prevent lymphoma development. Thus, many studies have focused on...
Aims The influence of CYP2C19 polymorphisms on voriconazole plasma concentrations is recognized, but its extent, other contributing factors and risks for adverse reactions remain under‐explored. Methods This study focused Japanese paediatric patients recruited between 2020 2022 treated with voriconazole. We specifically investigated the occurrence cholestasis thrombocytopenia as Voriconazole levels were modelled in a previous using population pharmacokinetics approach. Missing values...
Introduction Age-related alterations in muscle tissue morphology and function, as well chronic pro-inflammatory conditions, contribute to the development of sarcopenia. To elucidate multidimensional pathogenesis sarcopenia, we performed a comprehensive genetic analysis, including common variants, rare variants human leukemia antigen (HLA). Methods A total 129 older adults were analyzed using WGS, 67 sarcopenia patients 62 normal controls. Sarcopenia was diagnosed according Asian Working...
Sunitinib is a tyrosine kinase inhibitor and used as the first-line treatment for advanced renal cell carcinoma (RCC). Nevertheless, inter-individual variability of drug’s toxicity was often observed among patients who received sunitinib treatment. This study to investigate association functional germline variant on ABCG2 that affects pharmacokinetics with sunitinib-induced RCC in Japanese population. A total 219 were recruited this pharmacogenetic study. 421C>A (Q141K) genotyped by using...
Pharmacogenomics can enhance the outcome of treatment by adopting pharmacogenomic testing to maximize drug efficacy and lower risk serious adverse events. Next-generation sequencing (NGS) is a cost-effective technology for genotyping several loci at once, thereby increasing publicly available data. A panel 100 pharmacogenes among Southeast Asian (SEA) populations was resequenced using NGS platform under collaboration Research Network (SEAPharm). Here, we present frequencies variants...
To investigate the associations between atorvastatin-induced liver injury (AILI) and polymorphisms in eight genes possibly involved hepatic metabolism (CYP2C9, CYP2C19, CYP3A4, CYP3A5 UGT1A1) membrane transport (ABCB1, ABCG2 SLCO1B1) of atorvastatin, we genotyped 30 AILI 414 non-AILI patients recruited at BioBank Japan for 15 single nucleotide (SNPs).An SNP ABCB1 (rs2032582: 2677G > T/A) was significantly associated with (P = 0.00068, odds ratio (OR) 2.59 95 % confidence interval (CI)...
Abstract Late-onset Alzheimer’s disease (LOAD) is the most common cause of dementia among those older than 65 years. The onset LOAD influenced by neuroinflammation. human leukocyte antigen (HLA) system involved in regulating inflammatory responses. Numerous HLA alleles and their haplotypes have shown varying associations with diverse populations, yet impact on Japanese population remains to be elucidated. Here, we conducted a comprehensive investigation into between within population. Using...
Sunitinib is a multi-targeted receptor tyrosine kinase inhibitor that acts against receptors for vascular endothelial growth factor and platelet-derived factor. Common toxicities of sunitinib treatment include hypertension, hand–foot syndrome, vomiting, diarrhea, the proportion grade 3 or 4 adverse events relating to range from 1 13% all categories. It reported increased exposure associated with improved clinical outcomes but also carries an risk effects. A 73-year-old Japanese woman...
The nicotine metabolite ratio (NMR; 3-hydroxycotinine/cotinine) is an index of CYP2A6 activity. responsible for nicotine's metabolic inactivation and variation in the NMR/CYP2A6 associated with several smoking behaviors. Our aim was to integrate established alleles novel genome-wide association studies (GWAS) signals create a weighted genetic risk score (wGRS) gene European-ancestry populations. wGRS compared previous scoring approach designed alternative phenotype (C2/N2;...
Antituberculosis drug-induced liver injury (ATDILI) is a common side effect leading to tuberculosis (TB) treatment disruption. The mechanism of the disease remains poorly understood. We conducted genomewide association study (GWAS) investigate all possible genetic factors ATDILI in Thai patients. This was carried out TB patients, including 79 cases and 239 tolerant controls from our network hospitals Thailand.
The purposes of the present study were to elucidate pharmacokinetics zonisamide, determine presence a drug interaction with phenobarbital, and evaluate how long any lasted after discontinuation phenobarbital in dogs. Five dogs received zonisamide (5 mg/kg, p.o. i.v.) before during repeated oral administration bid, for 30-35 days). Zonisamide p.o.) was also administered 8, 10, 12 weeks phenobarbital. Blood sampled until 24 h each serum concentrations determined. Repeated decreased maximum...
// Tomoko Yoshihama 1, 2 , Koya Fukunaga 1 Akira Hirasawa Hiroyuki Nomura Akahane Fumio Kataoka Wataru Yamagami Daisuke Aoki and Taisei Mushiroda Laboratory for Pharmacogenomics, RIKEN Center Integrative Medical Sciences, Yokohama, Japan Department of Obstetrics Gynecology, Keio University School Medicine, Tokyo, Correspondence to: Mushiroda, email: mushiroda@riken.jp Keywords: pharmacogenomics; carboplatin; ovarian cancer; next-generation sequencer; targeted resequencing Received: April 07,...
Abstract Genetic variations have an established impact on the pharmacological response. Investigating this variation resulted in a compilation of variants “pharmacogenes”. The emergence next-generation sequencing facilitated large-scale pharmacogenomic studies and exhibited extensive variability pharmacogenes. Some rare population-specific proved to be actionable, suggesting significance population research. A profound gap exists knowledge enriched some populations, including United Arab...
The Nicotine Metabolite Ratio (NMR; 3‐hydroxycotinine/cotinine), a highly heritable index of nicotine metabolic inactivation by the CYP2A6 enzyme, is associated with numerous smoking behaviors and diseases, as well unique cessation outcomes. However, NMR cannot be measured in nonsmokers, former smokers, or intermittent for example, evaluating tobacco‐related disease risk. Traditional pharmacogenetic groupings based on * alleles capture modest portion variation. We previously created weighted...
Bovine major histocompatibility complex (MHC) class II region contains many genes. The bovine leukocyte antigen (BoLA)-DRB3 was reportedly associated with susceptibility of various phenotypes infections including leukemia virus-induced lymphoma. However, the association remaining genes has not been clarified due to complicated genomic structure MHC region. Thus, in this study, we elucidated structure, novel alleles and copy number variations (CNVs). We determined numbers BOLA-DQA2 (DQA2),...
Variability in the enzymatic activity of N -acetyltransferase 2 (NAT2) is an important contributor to interindividual differences drug responses. However, there little information on functional -acetylation activities according NAT2 phenotypes, i.e., rapid, intermediate, slow, and ultra-slow acetylators, between different substrate drugs. Here, we estimated genotypes 990 Japanese individuals compared frequencies with those populations. We then calculated vitro kinetic parameters four alleles...
To clarify the interaction between St John's wort (SJW) and cyclosporine (CsA) in dogs, pharmacokinetics of CsA before during repeated administration SJW were analyzed. In group, (300 mg) was given orally to four dogs every 24 h for 14 days. A single dose (5 mg/kg) 7 days after initiation SJW. Control a other accordance with that group. Blood samples from both groups collected, whole-blood concentrations determined using high-performance liquid chromatography UV detection. The maximum...
CYP2A6 activity, phenotyped by the nicotine metabolite ratio (NMR), is a predictor of several smoking behaviors, including cessation and smoking-related disease risk. The heritability NMR 60-80%, yet weighted genetic risk scores (wGRSs) based on common variants explain only 30-35%. Rare (minor allele frequency <1%) are hypothesized to some this missing heritability. We present two targeted sequencing studies where rare protein-coding functionally characterized in vivo, silico, vitro examine...