• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

伊朗人群基因变异频率分析

Analysis of Gene Variant Frequencies in Iranian Population.

作者信息

Hokmabadi Mahsa, Asadifard Elnaz, Arbabi-Bidgoli Sepideh, Naghavi Anoosh, Hasanzad Mandana

机构信息

Medical Genomic Research Center, Tehran Medical Sciences Islamic Azad University, Tehran, Iran.

The authors contributed equally to this work.

出版信息

Iran J Med Sci. 2025 May 1;50(5):351-358. doi: 10.30476/ijms.2024.102645.3570. eCollection 2025 May.

DOI:10.30476/ijms.2024.102645.3570
PMID:40433186
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12104541/
Abstract

BACKGROUND

The cytochrome P450 (P450s or CYPs) enzyme family, particularly , significantly influences drug metabolism, handling approximately 20-25% of prescribed medications. Understanding genetic polymorphisms is crucial for personalized medicine and optimizing drug therapy in specific geographic and racial contexts. Given the complex nature of studying genotypes, this study aimed to assess the prevalence of rare star alleles, including rs267608319 (*31), rs1931013246 (*55), rs569439709 (*113), and rs747089665 (*135), within the Iranian population.

METHODS

Blood samples were obtained from 389 individuals across several ethnic groups in Tehran, Iran, from May to December 2022. PCR was used to amplify the region containing the desired variant. Genotyping was performed using the Sanger sequencing method.

RESULTS

Our analysis revealed a high frequency of normal alleles for all four studied variants, indicating the absence of the risk allele in the Iranian population. These findings suggest that the studied alleles have no apparent effect on various ethnic groups in Iran.

CONCLUSION

The Iranian population has a typical genetic makeup for variations, impacting medication prescribing. Understanding genetic differences is crucial for personalized drug therapies. Further research into Iranian genetic variations is essential for advancing personalized medicine.

摘要

背景

细胞色素P450(P450s或CYPs)酶家族,尤其是[此处原文缺失具体内容],对药物代谢有显著影响,约占处方药物的20%-25%。了解基因多态性对于个性化医疗以及在特定地理和种族背景下优化药物治疗至关重要。鉴于研究[此处原文缺失具体内容]基因型的复杂性,本研究旨在评估伊朗人群中罕见的[此处原文缺失具体内容]星号等位基因的流行情况,包括rs267608319(*31)、rs1931013246(*55)、rs569439709(*113)和rs747089665(*135)。

方法

2022年5月至12月,从伊朗德黑兰的几个民族的389名个体中采集血样。采用聚合酶链反应(PCR)扩增包含所需变体的区域。使用桑格测序法进行基因分型。

结果

我们的分析显示,所有四个研究变体的正常等位基因频率都很高,这表明伊朗人群中不存在风险等位基因。这些发现表明,所研究的等位基因对伊朗的各个民族没有明显影响。

结论

伊朗人群在[此处原文缺失具体内容]变异方面具有典型的基因构成,这会影响药物处方。了解基因差异对于个性化药物治疗至关重要。进一步研究伊朗的基因变异对于推进个性化医疗至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a70/12104541/0770fd194b4a/IJMS-50-351-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a70/12104541/9cb2af3787b7/IJMS-50-351-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a70/12104541/0770fd194b4a/IJMS-50-351-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a70/12104541/9cb2af3787b7/IJMS-50-351-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a70/12104541/0770fd194b4a/IJMS-50-351-g002.jpg

相似文献

1
Analysis of Gene Variant Frequencies in Iranian Population.伊朗人群基因变异频率分析
Iran J Med Sci. 2025 May 1;50(5):351-358. doi: 10.30476/ijms.2024.102645.3570. eCollection 2025 May.
2
Prevalence of the CYP2D6*10 (C100T), *4 (G1846A), and *14 (G1758A) alleles among Iranians of different ethnicities.不同种族伊朗人群中CYP2D6*10(C100T)、*4(G1846A)和*14(G1758A)等位基因的流行率。
Drug Des Devel Ther. 2015 May 13;9:2627-34. doi: 10.2147/DDDT.S79709. eCollection 2015.
3
Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.罗姆人群样本中药物代谢CYP2B6和CYP2D6基因功能性次要等位基因变体的患病率增加。
Pharmacol Rep. 2015 Jun;67(3):460-4. doi: 10.1016/j.pharep.2014.11.006. Epub 2014 Nov 27.
4
Frequency of five important CYP2D6 alleles within an Iranian population (Eastern Azerbaijan).伊朗人群(东阿塞拜疆省)中五个重要CYP2D6等位基因的频率
Genet Test Mol Biomarkers. 2009 Oct;13(5):665-70. doi: 10.1089/gtmb.2009.0009.
5
Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population.意大利人群中CYP2C9、CYP2C19和CYP2D6的等位基因及基因型频率
Pharmacol Res. 2004 Aug;50(2):195-200. doi: 10.1016/j.phrs.2004.01.004.
6
Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I.人类细胞色素P450 2D6的多态性及其临床意义:第一部分。
Clin Pharmacokinet. 2009;48(11):689-723. doi: 10.2165/11318030-000000000-00000.
7
Frequencies of three CYP2D6 nonfunctional alleles (CYP2D6*3, *4, and *6) within an Iranian population (Mazandaran).伊朗人群(马赞德兰省)中三种CYP2D6无功能等位基因(CYP2D6*3、*4和*6)的频率
Genet Test Mol Biomarkers. 2011 Nov;15(11):821-5. doi: 10.1089/gtmb.2011.0033. Epub 2011 Jun 1.
8
Polymorphisms of CYP2C19 and CYP2D6 in Israeli ethnic groups.以色列不同种族群体中CYP2C19和CYP2D6的多态性。
Am J Pharmacogenomics. 2004;4(6):395-401. doi: 10.2165/00129785-200404060-00006.
9
Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.在一个种族多样化的南佛罗里达人群中进行细胞色素 P450 2D6(CYP2D6)检测的结果和挑战。
Mol Genet Genomic Med. 2019 Sep;7(9):e922. doi: 10.1002/mgg3.922. Epub 2019 Aug 7.
10
Discovery of novel functional variants and extensive evaluation of CYP2D6 genetic polymorphisms in Koreans.韩国人中新的功能性变异的发现及CYP2D6基因多态性的广泛评估。
Drug Metab Dispos. 2009 Jul;37(7):1464-70. doi: 10.1124/dmd.108.022368. Epub 2009 Apr 13.

本文引用的文献

1
Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations.撒哈拉以南非洲人群 CYP2D6 药物遗传学变异的特征。
Clin Pharmacol Ther. 2023 Mar;113(3):643-659. doi: 10.1002/cpt.2749. Epub 2022 Oct 21.
2
ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.ClinPharmSeq:用于临床药物基因组学实施的靶向测序面板。
PLoS One. 2022 Jul 28;17(7):e0272129. doi: 10.1371/journal.pone.0272129. eCollection 2022.
3
Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.
药物基因变异联盟:一个全球药物基因变异资源库。
Clin Pharmacol Ther. 2021 Sep;110(3):542-545. doi: 10.1002/cpt.2321. Epub 2021 Jun 29.
4
StellarPGx: A Nextflow Pipeline for Calling Star Alleles in Cytochrome P450 Genes.StellarPGx:用于在细胞色素 P450 基因中调用星等位基因的 Nextflow 管道。
Clin Pharmacol Ther. 2021 Sep;110(3):741-749. doi: 10.1002/cpt.2173. Epub 2021 Feb 28.
5
Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy.临床药物遗传学实施联盟指南:CYP2D6、OPRM1 和 COMT 基因型与选择性阿片类药物治疗。
Clin Pharmacol Ther. 2021 Oct;110(4):888-896. doi: 10.1002/cpt.2149. Epub 2021 Feb 9.
6
A Review of the Important Role of in Pharmacogenomics.在药物基因组学中重要作用的综述。
Genes (Basel). 2020 Oct 30;11(11):1295. doi: 10.3390/genes11111295.
7
Pharmacogenetics in Psychiatry: An Update on Clinical Usability.精神病学中的药物遗传学:临床实用性的最新进展
Front Pharmacol. 2020 Sep 11;11:575540. doi: 10.3389/fphar.2020.575540. eCollection 2020.
8
Pharmacogenomics biomarkers for personalized methadone maintenance treatment: The mechanism and its potential use.用于个性化美沙酮维持治疗的药物基因组学生物标志物:作用机制及其潜在用途。
Bosn J Basic Med Sci. 2021 Apr 1;21(2):145-154. doi: 10.17305/bjbms.2020.4897.
9
Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.标准化 CYP2D6 基因型到表型的转化:临床药物基因组学实施联盟和荷兰药物基因组学工作组的共识建议。
Clin Transl Sci. 2020 Jan;13(1):116-124. doi: 10.1111/cts.12692. Epub 2019 Oct 24.
10
PharmVar GeneFocus: CYP2D6.PharmVar 基因焦点:CYP2D6。
Clin Pharmacol Ther. 2020 Jan;107(1):154-170. doi: 10.1002/cpt.1643. Epub 2019 Dec 9.