Allelic and Genotype Frequencies of CYP2B6^∗2 (64C > T) and CYP2B6^∗3 (777C > A) in Three Dominant Ethnicities of the Iranian Population.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Genetics research Pub Date : 2023-01-01 DOI:10.1155/2023/8283470

Armin Khavandegar, Bahareh Tavakoli-Far, Sarina Ansari, Parisa Veis-Karami, Faezeh Ghasemi, Samira Sheibaninia, Roshanak Jazayeri, Massoud Houshmand

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Abstract

Background: Cytochrome P450 complex plays a key role in drug metabolism. CYP2B6 has an essential part in Cytochrome P450 complex metabolism. This study aims to determine the allelic distribution of CYP2B6^∗2 and CYP2B6^∗3 in three main Iranian ethnicities: Fars, Turk, and Kurd.

Methods: The study was conducted on 174 unrelated healthy volunteers from three main Iranian ethnicities. After DNA extraction from peripheral blood samples, genotyping of CYP2B6^∗2 and ^∗3 was performed using tetra ARMS and ARMS PCR, respectively.

Results: The average age of 174 cases was 40.69 ± 11.87 (mean ± SD) and 39.06 ± 11.63 (mean ± SD) for males and females. In the CYP2B6^∗2 variant, the genotyping frequency of wild type (C/C), heterozygous (C/T), and homozygous mutant (T/T) was 8.7%, 86%, and 5.2%, respectively. The CYP2B6^∗2 (c.64C > T) allele frequency was 48.2% (95% CI: (37.8-58.6)). In the CYP2B6^∗3 variant, the frequency of wild type (C/C), heterozygous (C/T), and homozygous mutant (T/T) was 75.3%, 11%, and 13.6%, respectively. The CYP2B6^∗3 (c.777C > A) allelic frequency was 19.1% (95% CI: (17.5-20.7)).

Conclusion: Allelic distribution in three main Iranian ethnicities, i.e., Turk, Kurd, and Fars, is remarkably higher than that in other populations, even that in Southern Iran. High frequencies of CYP2B6^∗2 and ^∗3 in the Iranian population highly affect drug responsiveness. Understanding such variability could help to increase drug efficacy and reduce its toxicity.

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伊朗三个优势民族CYP2B6∗2 (64C > T)和CYP2B6∗3 (777C > A)等位基因和基因型频率

背景:细胞色素P450复合物在药物代谢中起关键作用。CYP2B6在细胞色素P450复合物代谢中起重要作用。本研究旨在确定CYP2B6∗2和CYP2B6∗3的等位基因分布在三个主要的伊朗民族:法尔人，土耳其人和库尔德人。方法:对174名来自伊朗三个主要民族的无血缘关系的健康志愿者进行研究。提取外周血样本DNA后，分别用四元ARMS和ARMS PCR对CYP2B6∗2和∗3进行基因分型。结果:174例患者男女平均年龄分别为40.69±11.87 (mean±SD)和39.06±11.63 (mean±SD)。在CYP2B6 * 2突变体中，野生型(C/C)、杂合型(C/T)和纯合型(T/T)基因分型频率分别为8.7%、86%和5.2%。CYP2B6 * 2 (c.64C > T)等位基因频率为48.2% (95% CI: 37.8 ~ 58.6)。在CYP2B6 * 3突变体中，野生型(C/C)、杂合型(C/T)和纯合型(T/T)的频率分别为75.3%、11%和13.6%。CYP2B6 * 3 (c.777C > A)等位基因频率为19.1% (95% CI: 17.5 ~ 20.7)。结论:土耳其族、库尔德族和法尔斯族三个主要伊朗民族的等位基因分布明显高于其他人群，甚至高于伊朗南部地区。CYP2B6 * 2和* 3在伊朗人群中的高频率高度影响药物反应性。了解这种可变性有助于提高药物疗效并降低其毒性。

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.