Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population

doi:10.1016/j.heliyon.2024.e28952

科研成果详情

题名	Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population
作者	Zhang, Li-Qun 1; Li, Xin-Yue4; Chen, Lian-Guo2; Chen, Zhe 3; Xu, Ren-Ai2; Qian, Jian-Chang4; Zhou, Xiao-yang 1; Dai, Da-Peng 1; Hu, Guo-Xin4; Cai, Jian-Ping 1
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 CYP2B61. Further, these 11 novel star-alleles (CYP2B639-49) 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).