[1]葛高顺,倪二茹,方宜臻,等.厦门地区心血管疾病患者外周血单个核细胞CYP2C19基因型与表型的分布研究[J].现代检验医学杂志,2018,33(04):8-11，15.[doi:10.3969/j.issn.1671-7414.2018.04.003]
　GE Gao-shun,NI Er-ru,FANG Yi-zhen,et al.Study on the Distribution of CYP2C19 Genotypes and Phenotypes Mononuclear Cells of Peripheral Blood from Patients with Cardiovascular Diseases in Xiamen Area[J].Journal of Modern Laboratory Medicine,2018,33(04):8-11，15.[doi:10.3969/j.issn.1671-7414.2018.04.003]
点击复制

厦门地区心血管疾病患者外周血单个核细胞CYP2C19基因型与表型的分布研究()
分享到：

《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年04期
页码:
8-11，15
栏目:
论著
出版日期:
2018-08-30

文章信息/Info

Title:
Study on the Distribution of CYP2C19 Genotypes and Phenotypes Mononuclear Cells of Peripheral Blood from Patients with Cardiovascular Diseases in Xiamen Area
文章编号:
1671-7414(2018)04-008-05
作者:
葛高顺; 倪二茹; 方宜臻; 孟 琦; 郭奕昌; 谢华斌
厦门大学附属心血管病医院检验科,福建厦门 361004
Author(s):
GE Gao-shun; NI Er-ru; FANG Yi-zhen; MENG Qi; GUO Yi-chang; XIE Hua-bin
Department of Laboratory Medicine, Cardiovascular Hospitals of Xiamen University,Fujian Xiamen 361004,China
关键词:
心血管疾病;  CYP2C19;  基因多态性
分类号:
R54; Q786
DOI:
10.3969/j.issn.1671-7414.2018.04.003
文献标志码:
A
摘要:
目的 探讨厦门地区心血管疾病患者外周血单个核细胞(PBMCs)CYP2C19基因型与表型的分布情况,为心血管疾病患者的合理用药提供依据。方法 以2016年4月～2018年4月厦门地区2 017例心血管疾病患者为研究对象,采用荧光染色原位杂交法检测CYP2C19*2,CYP2C19*3及CYP2C19*17基因,统计分析该地区基因型与表型的分布特征,并与已报道其他地区的结果进行比较。结果 CYP2C19*2,CYP2C19*3及CYP2C19*17基因突变率分别为57.21%,10.61%和0.99%,超快代谢型(ultrarapid metabolizer,UM)、快代谢型(extensive metabolizer,EM)、中间代谢型(intermediate metabolizer,IM)和慢代谢型(poor metabolizer,PM)检出率分别为0.55%,35.35%,50.47%和13.63%。不同性别、年龄和疾病类型组比较差异无统计学意义(P>0.05); 厦门地区与南京、北京、武汉等地区及韩国、泰国比较差异无统计学意义(P>0.05),与大连地区及西班牙、俄罗斯、伊朗、土耳其等国家比较差异有统计学意义(P<0.05)。结论 厦门地区心血管疾病患者CYP2C19基因型与表型分布有地区差异,且慢代谢型比例较高。
Abstract:
Abstract:Objective To investigate the distribution of CYP2C19 genotypes and phenotypes in mononuclear cells of peripheral blood from patients with cardiovascular diseases of Xiamen area,in order to provide evidencefor rational use of cardiovascular disease.Methods The experimental groud was peripheral blood samples from 2 017 patients diagnosed ascardiovascular diseases in Xiamen from April 2016 to April 2018,CYP2C19*2,CYP2C19*3 and CYP2C19*17 genes were detected by the fluorescence detector,and the distribution of CYP2C19 genotypes and phenotypes of this study was analyzed and compared with some reported areas.Results The allele frequencies of CYP2C19*2,CYP2C19*3 and CYP2C19*17 were 57.21%,10.61% and 0.99%,and UM,EM,IM,PM were 0.55%,35.35%,50.47% and 13.63%,respectively.Different gender,age,type of disease had no statistical significance in CYP2C19genotypes and phenotypes differences(P>0.05).There were no statistical significance between Xiamen area and Nanjing,Beijing,Wuhan,South Korea and Thailand(P>0.05),while compared with Dalian areas,Spanish,Russia,Iran andTurkey it had statistical significance(P<0.05).Conclusion The distribution of CYP2C19 genotypes and phenotypes among patients with cardiovascular diseases of Xiamen area had regional specificity,and the frequency of PM was higher.

参考文献/References:

[1] Scott SA,Sangkuhl K,Shuldiner AR,et al.Pha-rm GKB summary:very important pharmacogene information for cytochrome P450,family 2,subfamilyC, polypeptide 19[J].Pharmacogenet Genomics,2012,22(2):159-165.
[2] Scott SA,Sangkuhl K,Stein CM,et al.Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy:2013update[J].Clin Pharmacol Ther,2013,94(3):317-323.
[3] Shuldiner AR,O'Connell JR,Bliden KP,et al.Association of cytochromeP450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy[J].the Journal of the American Medical Association,2009,302(8):849-857.
[4] Just KS,Schneider KL,Schurig M,et al.Falls:the adverse drug reactionof the elderly and the impact of pharmacogenetics[J].Pharmacogenomics,2017,18(13):1281-1297.
[5] Sun W,Li Y,Li J,et al.Variant recurrent risk among stroke patients with different CYP2C19 phenotypes and treated with clopidogrel[J].Platelets,2015,26(6):558-562.
[6] 蒋兴然,张云岗,路 军,等.北方地区汉族消化道疾病中CYP2C19基因多态性分析[J].临床与实验病理学杂志,2016,32(10):1101-1104,1109. Jiang XR,Zhang YG,Lu J, et al.Distribution of CYP2C19 genetic polymorphisms in a north Chinese Han population with digestive tract diseases[J].J Clin Exp Pathol,2016,32(10):1101-1104,1109.
[7] 韩瑞玲,李 艳,吴 薇.武汉地区冠心病患者氯吡格雷药物代谢相关基因CYP2C19的多态性分布分析[J].现代检验医学杂志,2015,30(3):21-23. Han RL,Li Y,Wu W.Analysis of the polymorphism distribution of clopidogrel metabolism related gene CYP2C19 in patients with coronary artery disease in Wuhan[J].J Mod Lab Med,2015,30(3):21-23.
[8] Zhang J,Zhang H,Li K,et al.Development of a polymerase chain reaction/ligase detection reaction assay for detection of CYP2C19 polymorphisms[J].Genet Test Mol Biomarkers,2018,22(1):62-73.
[9] Sukasem C,Tunthong R,Chamnanphon M,et al.CYP2C19 polymorphisms in theThai population and the clinical response to clopidogrel in patients with atherothrombotic-risk factors[J].Pharmacoenomics Pers Med,2013,6:85-91.
[10] Kim KA,Song WK,Kim KR,et al.Assessment of CYP2C19 genetic polymorphisms in a Korean population using a simultaneous multiplex pyrosequencingmethod to simultaneously detect the CYP2C19*2,CYP2C19*3,and CYP2C19*17 alleles[J].J Clin Pharm Ther,2010,35(6):697-703.
[11] Sychev DA,Denisenko NP,Sizova ZM,et al.The frequency of CYP2C19 genetic polymorphisms in Russian patients with peptic ulcers treated with proton pump inhibitors[J].Pharmgenomics Pers Med,2015,8:111-114.
[12] Payan M,Tajik N,Rouini MR,et al.Genotype and allele frequency of CYP2C19*17 in a healthy Iranian population[J].Med J Islam Repub Iran,2015,29(1):269.
[13] Martínez-Quintana E,Rodríguez-González F,Medina-Gil JM,et al.CYP2C19 activity and cardiovascular risk factors in patients with an acute coronary syndrome[J].Med Clin(Barc),2017,149(6):235-239.
[14] Gumus E,Karaca O,Babaoglu MO,et al.Evaluation of lansoprazole as a probe for assessing cytochrome P450 2C19 activity and genotype-phenotype correlation in childhood[J].Eur J Clin Pharmacol,2012,68(5):629-636.
[15] Matetzky S,Shenkman B,Guetta V,et al.Clopidogrel resistance is associated with increased risk of recurrent atherothrombotic events in patients withacute myocardial infarction[J].Circulation,2004,109(25):3171-3175.
[16] Paré G,Mehta SR,Yusuf S,et al.Effects of CY P2C19 genotype on outcomes of clopidogrel treatment[J].N Engl J Med,2010,363(18):1704-1714.
[17] Mirzaev KB,Zelenskaya EM,Barbarash OL,et al.CYP2C19 polymorphism frequency in Russian patients in Central Russia and Siberia with acute coronary syndrome[J].Pharmgenomics Pers Med,2017,10:107-114.

相似文献/References:

[1]吴 薇,王丽岳,李 艳.DNA微阵列芯片法与直接测序法检测CYP2C19基因型的比较研究[J].现代检验医学杂志,2016,31(02):8.[doi:10.3969/j.issn.1671-7414.2016.02.003]
　WU Wei,WANG Li-yue,LI Yan.Comparison Analysis of CYP2C19 Polymorphisms Detection by DNA Microarray and DNA Microarray[J].Journal of Modern Laboratory Medicine,2016,31(04):8.[doi:10.3969/j.issn.1671-7414.2016.02.003]
[2]李苗苗,王玉红,刘 静.中国沈阳地区汉族冠心病患者CYP2C19基因多态性分布特征[J].现代检验医学杂志,2019,34(02):5.[doi:10.3969/j.issn.1671-7414.2019.02.002]
　LI Miao-miao,WANG Yu-hong,LIU jing.Distribution Characteristics of CYP2C19 Gene Polymorphismin Han Patients with Coronary Heart Disease in Shenyang,China[J].Journal of Modern Laboratory Medicine,2019,34(04):5.[doi:10.3969/j.issn.1671-7414.2019.02.002]
[3]封建华,叶建明,赵 毅,等.终末期肾病维持性血液透析患者血清SORT 和IGF-1 水平表达与心血管疾病发生及预后的相关性研究[J].现代检验医学杂志,2024,39(03):125.[doi:10.3969/j.issn.1671-7414.2024.03.021]
　FENG Jianhua,YE Jianming,ZHAO Yi,et al.Correlation among the Expression of Serum SORT and IGF-1 Levels in Maintenance Hemodialysis Patients with End Stage Renal Disease and the Occurrence and Prognosis of Cardiovascular Diseases[J].Journal of Modern Laboratory Medicine,2024,39(04):125.[doi:10.3969/j.issn.1671-7414.2024.03.021]

备注/Memo

备注/Memo:
基金项目:厦门市科技局科技惠民项目(3502Z20174009)。 作者简介:葛高顺(1986-),男,硕士,主管检验技师,主要从事临床分子生物学诊断工作,E-mail:gegaoshun87@163.com。 通讯作者:谢华斌,男,本科,主任技师,主要从事临床分子生物学诊断工作,E-mail:xmsccl@126.com。
更新日期/Last Update: 2018-08-16