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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.

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/6a70/12104541/9cb2af3787b7/IJMS-50-351-g001.jpg

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