题名 | Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population |
作者 | |
发表日期 | 2024-04-15 |
发表期刊 | Heliyon 影响因子和分区 |
语种 | 英语 |
原始文献类型 | Journal Article |
关键词 | CYP2B6 Catalytic activity Genetic variant Haplotype |
其他关键词 | EFAVIRENZ ; METABOLISM ; POLYMORPHISMS ; CYP2C19 ; CYCLOPHOSPHAMIDE ; PHARMACOGENETICS ; EXPRESSION ; MARKER ; Q172H |
摘要 | Amino acid variants in protein may result in deleterious effects on enzymatic activity. In this study we investigate the DNA variants on activity of CYP2B6 gene in a Chinese Han population for potential use in precision medicine. All exons in CYP2B6 gene from 1483 Chinese Han adults (Zhejiang province) were sequenced using Sanger sequencing. The effects of nonsynonymous variants on recombinant protein catalytic activity were investigated in vitro with Sf12 system. The haplotype of novel nonsynonymous variants with other single nucleotide variants in the same allele was determined using Nanopore sequencing. Of 38 alleles listed on the Pharmacogene Variation Consortium, we detected 7 previously reported alleles and 18 novel variants, of which 11 nonsynonymous variants showed lower catalytic activity (0.00-0.60) on bupropion compared to CYP2B6*1. Further, these 11 novel star-alleles (CYP2B6*39-49) were assigned by the Pharmacogene Variation Consortium, which may be valuable for pharmacogenetic research and personalized medicine |
资助项目 | Beijing Hospital Project[BJ-2019-186];National Key R&D Program of China[2020YFC2008300]; |
出版者 | CELL PRESS |
ISSN | 2405-8440 |
EISSN | 2405-8440 |
卷号 | 10期号:7 |
DOI | 10.1016/j.heliyon.2024.e28952 |
页数 | 8 |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
WOS记录号 | WOS:001215276500001 |
收录类别 | PUBMED ; SCIE ; SCOPUS |
在线发表日期 | 2024-04 |
URL | 查看原文 |
PubMed ID | 38596098 |
SCOPUSEID | 2-s2.0-85189529182 |
通讯作者地址 | [Cai, Jian-Ping]The Key Laboratory of Geriatrics,Beijing Institute of Geriatrics,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing Hospital/National Center of Gerontology of National Health Commission,China |
Scopus学科分类 | Multidisciplinary |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | https://kms.wmu.edu.cn/handle/3ETUA0LF/211105 |
专题 | 药学院(分析测试中心) 附属第一医院 药学院(分析测试中心)_分子药理研究与教学中心 |
通讯作者 | Cai, Jian-Ping |
作者单位 | 1.The Key Laboratory of Geriatrics,Beijing Institute of Geriatrics,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing Hospital/National Center of Gerontology of National Health Commission,China; 2.The First Affiliated Hospital of Wenzhou Medical University,Zhejiang,Wenzhou,325000,China; 3.Pharmacy department,Wenzhou people's hospital,Zhejiang,Wenzhou,325000,China; 4.Institute of Molecular Toxicology and Pharmacology,School of Pharmaceutical Sciences,Wenzhou Medical University,Zhejiang,Wenzhou,China |
推荐引用方式 GB/T 7714 | Zhang, Li-Qun,Li, Xin-Yue,Chen, Lian-Guo,et al. Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population[J]. Heliyon,2024,10(7). |
APA | Zhang, Li-Qun., Li, Xin-Yue., Chen, Lian-Guo., Chen, Zhe., Xu, Ren-Ai., ... & Cai, Jian-Ping. (2024). Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population. Heliyon, 10(7). |
MLA | Zhang, Li-Qun,et al."Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population".Heliyon 10.7(2024). |
条目包含的文件 | 条目无相关文件。 |
除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。
修改评论