Genetic variations of human CYP2D6 in the Chinese Han population

doi:10.2217/pgs.13.160

科研成果详情

题名	Genetic variations of human CYP2D6 in the Chinese Han population
作者	Qian, Jian-Chang1,2; Xu, Xin-Min 1,3; Hu, Guo-Xin4; Dai, Da-Peng 1; Xu, Ren-Ai2,5; Hu, Li-Ming 2; Li, Fang-Hong6; Zhang, Xiu-Hua5; Yang, Jie-Fu 7; Cai, Jian-Ping 1
发表日期	2013-11
发表期刊	PHARMACOGENOMICS 影响因子和分区
语种	英语
原始文献类型	Article
关键词	Chinese Han population CYP2D6 haplotype pharmacogenetics polymorphism
其他关键词	HUMAN CYTOCHROME-P450 2D6 ; ALLELE FREQUENCY ; ULTRARAPID METABOLIZERS ; DEBRISOQUINE ; POLYMORPHISM ; GENOTYPE ; PHENOTYPE ; OXIDATION ; VARIANTS ; ENZYMES
摘要	Aim: The purpose of this study was to determine the genetic polymorphisms of the CYP2D6 gene and to elucidate the allele distribution pattern in the Chinese Han population. Materials & methods: We used PCR and bidirectional sequencing methods to analyze all nine exons of the CYP2D6 gene in 2129 unrelated, healthy Chinese Han subjects from two geographical locations in China: the northern and southern regions. Results: In total, 165 mutated sites were detected in 2129 participants, of which 67 sites were reported for the first time. Among these novel mutation sites, 22 were nonsynonymous and 12 were named as novel alleles (87-93, 94A, 94B and 95-98) by the Human CYP Allele Nomenclature Committee. In addition, 29 previously reported alleles and 84 genotypes were also detected in 1954 volunteers. Functional prediction of novel variants revealed that eight variants might have a deleterious effect on CYP2D6. Linkage disequilibrium analysis and tagSNP selection were performed separately. By using these methods, distinct differences were found between the two regions. Conclusion: This study provides the most comprehensive data concerning CYP2D6 polymorphisms in the Chinese Han population to date and increases the number of known alleles; these findings may greatly contribute to the development of personalized medicine for the Chinese Han population. Original submitted 1 January 2013; Revision submitted 14 August 2013
资助项目	National Department Public Benefit Research Foundation by Ministry of Health PR China [201302008]; National Key Project for New Drug Investigations [2012ZX09303008]
出版者	FUTURE MEDICINE LTD
出版地	LONDON
ISSN	1462-2416
EISSN	1744-8042
卷号	14 期号:14 页码:1731-1743
DOI	10.2217/pgs.13.160
页数	13
WOS类目	Pharmacology & Pharmacy
WOS研究方向	Pharmacology & Pharmacy
WOS记录号	WOS:000326725800014
收录类别	SCIE ; PUBMED ; SCOPUS
URL	查看原文
PubMed ID	24192122
SCOPUSEID	2-s2.0-84897053714
通讯作者地址	[Cai, Jian-Ping]Key Laboratory of Geriatrics, Beijing Hospital and Beijing Institute of Geriatrics, Ministry of Health,No. 1, Dahua Road,China
Scopus学科分类	Molecular Medicine;Genetics;Pharmacology
引用统计	被引频次：52[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/7570
专题	研究生工作部（研究生院）药学院（分析测试中心）_临床药学与药理系附属第一医院_药学部药学部第一临床医学院（信息与工程学院）、附属第一医院_医疗保健中心
通讯作者	Cai, Jian-Ping
作者单位	1.Key Laboratory of Geriatrics, Beijing Hospital and Beijing Institute of Geriatrics, Ministry of Health,No. 1, Dahua Road,China; 2.Graduate School, Wenzhou Medical University, University-town,China; 3.Department of Clinical Laboratory, Beijing Ditan Hospital, Capital Medical University,China; 4.Department of Pharmacology, Wenzhou Medical University, University-town,China; 5.Department of Pharmacology, First Affiliated Hospital of Wenzhou Medical University,China; 6.Center of Healthcare, Wenzhou Medical University, University-town,China; 7.Department of Cardiology, Beijing Hospital, Ministry of Health,No. 1, Dahua Road,China
第一作者单位	研究生工作部
推荐引用方式 GB/T 7714	Qian, Jian-Chang,Xu, Xin-Min,Hu, Guo-Xin,et al. Genetic variations of human CYP2D6 in the Chinese Han population[J]. PHARMACOGENOMICS,2013,14(14):1731-1743.
APA	Qian, Jian-Chang., Xu, Xin-Min., Hu, Guo-Xin., Dai, Da-Peng., Xu, Ren-Ai., ... & Cai, Jian-Ping. (2013). Genetic variations of human CYP2D6 in the Chinese Han population. PHARMACOGENOMICS, 14(14), 1731-1743.
MLA	Qian, Jian-Chang,et al."Genetic variations of human CYP2D6 in the Chinese Han population".PHARMACOGENOMICS 14.14(2013):1731-1743.