伊朗主要民族CYP2B6等位基因频率影响对依非韦伦的反应

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY Genetics research Pub Date : 2022-01-01 DOI:10.1155/2022/5754776

Parham Mardi, Bahareh Tavakoli-Far, Samira Sheibani Nia, Roshanak Jazayeri, Massoud Houshmand

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引用次数: 0

摘要

Efavirenz是一种由细胞色素P450 2B6 (CYP2B6)酶代谢的抗人类免疫缺陷病毒(HIV)药物。细胞色素P450 2B6是一种由人类CYP2B6基因编码的酶。该基因的多态性在诸如依非韦伦等药物的代谢中起着至关重要的作用。本研究旨在评估三个主要伊朗民族中三种具有临床意义的CYP2B6多态性(CYP2B6∗6 (516G > T)， CYP2B6∗4 (785A > G)和CYP2B6∗5 (1459C > T))的频率。方法:本研究纳入了来自伊朗三个主要民族的147名参与者。DNA提取后，采用四引物扩增难解突变系统聚合酶链反应(ARMS-PCR)对CYP2B6∗6 (516G > T)、CYP2B6∗4 (785A > G)和CYP2B6∗5 (1459C > T)进行基因分型。结果:CYP2B6 * 6 (516G > T)等位基因在伊朗人群中的突变频率为41.50 (95% CI: 35.81, 47.36)，显著低于库尔德人群(59.62,95% CI: 45.10, 72.99)。同样，库尔德人CYP2B6 * 5 (1459C > T)等位基因突变频率(46.15%，95% CI: 32.23, 60.53)高于伊朗人(24.49%，95% CI: 19.68, 29.82)。CYP2B6 * 4 (785A > G)的A和G等位基因频率分别为62.59% (95% CI: 56.78, 68.13)和37.41 (95% CI: 31.87, 43.22)。结论:与其他伊朗人相比，库尔德人存在较高的药物不良反应(adr)风险，且抗hiv反应不足。

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Frequency of CYP2B6 Alleles in Major Iranian Ethnicities, Affecting Response to Efavirenz.

Introduction: Efavirenz is an antihuman immunodeficiency virus (HIV) drug metabolized by cytochrome P450 2B6 (CYP2B6) enzyme. Cytochrome P450 2B6 is an enzyme that in humans is encoded by the CYP2B6 gene. Polymorphisms of this gene play a crucial role in the metabolism of drugs such as Efavirenz. This study aims to evaluate the frequency of three clinically significant CYP2B6 polymorphisms (CYP2B6 ^∗ 6 (516G > T), CYP2B6 ^∗ 4 (785A > G), and CYP2B6 ^∗ 5 (1459C > T)) in three major Iranian ethnicities.

Methods: One hundred forty-seven participants from three main Iranian ethnicities were included in this study. After DNA extraction, CYP2B6 ^∗ 6 (516G > T), CYP2B6 ^∗ 4 (785A > G), and CYP2B6 ^∗ 5 (1459C > T) were genotyped using tetra-primer amplification refractory mutation system polymerase chain reaction (ARMS-PCR).

Results: The frequency of the mutated allele in the Iranian population for CYP2B6 ^∗ 6 (516G > T) was 41.50 (95% CI: 35.81, 47.36), which was significantly lower than in Kurds (59.62, 95% CI: 45.10, 72.99). Similarly, Kurds had a higher frequency of mutated allele of CYP2B6 ^∗ 5 (1459C > T) (46.15%, 95% CI: 32.23, 60.53) than in Iranians (24.49%, 95% CI: 19.68, 29.82). The frequency of A and G alleles of CYP2B6 ^∗ 4 (785A > G) was 62.59% (95% CI: 56.78, 68.13) and 37.41 (95% CI: 31.87, 43.22), respectively.

Conclusion: Kurds are at higher risk of adverse drug reactions (ADRs) and insufficient anti-HIV response compared to other Iranians.

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

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>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.