NBDC Research ID: hum0163.v2
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SUMMARY
Aims: Identification of biomarkers associated with efficacy and adverse drug reactions in therapeutics for psychiatric/neurological disorders or cancers, leading to establishment of stratified medicine based on pharmacogenomic information.
Methods: DNA/plasma samples and clinical information are collected from patients with psychiatric/neurological disorders or cancers. Targeted NGS analysis focusing on 100 pharmacogenes, HLA typing, metabolome analysis, and pharmacokinetic analysis were conducted to identify biomarkers associated with drug responses.
Participants/Materials: Patients receiving psychotropic drugs (lamotrigine and clozapine), and patients receiving anti-cancer molecular targeted drugs (regorafenib, trastuzumab and nivolumab)
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| hum0163.v1.freq.v1 | NGS (Target Capture) | Unrestricted-access | 2018/12/14 |
| hum0163.v2.nat2.v1 | NGS (NAT2 haplotype) | Unrestricted-access | 2021/02/09 |
MOLECULAR DATA
hum0163.v1.freq.v1 / hum0163.v2.nat2.v1
| Participants/Materials |
990 patients with psychiatric/neurological disorders or cancers - epilepsy (ICD10: G402) / bipolar disorder (ICD10: F319): 343 cases (receiving lamotrigine) - schizophrenia (ICD10: F209): 454 cases - breast cancer (ICD10: C509): 65 cases (receiving trastuzumab) - colorectal cancer (ICD10: C189): 83 cases (receiving regorafenib) - malignant melanoma (ICD10: C439): 45 cases (receiving nivolumab) |
| Targets | Target Capture |
| Target Loci for Capture Methods | diplotype of coding regions of 100 pharmacogenes (1846 variants), CYP2D6 gene and NAT2 gene |
| Platform | Illumina [MiSeq] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | in-house MultiplexPCR |
| Fragmentation Methods | - |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 250 bp x 2 |
| NBDC Dataset ID |
(Click the Dataset ID to download the file) |
| Total Data Volume |
hum0163.v1.freq.v1: 55 KB (csv.zip) hum0163.v2.nat2.v1: 1 KB (csv.zip) |
| Comments (Policies) | NBDC policy |
*When the research results including the data which were downloaded from NHA/DRA, are published or presented somewhere, the data user must refer the papers which are related to the data, or include in the acknowledgment. Learn more
DATA PROVIDER
Principal Investigator: Taisei Mushiroda
Affiliation: RIKEN Center for Integrative Medical Sciences, Laboratory for Pharmacogenomics
Project / Group Name: -
URL: http://www.riken.jp/en/research/labs/ims/pharmacogen/
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN), Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED) | Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology | 16km0405201h0001 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes. | doi: 10.18632/oncotarget.25712 | hum0163.v1.freq.v1 |
| 2 |
