Distribution of Cytochrome P450 2D6 (4, 9, 10, 41) alleles in healthy population from north-west of Iran.

IF 0.5 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

ARYA Atherosclerosis Pub Date : 2025-01-01 DOI:10.48305/arya.2025.42811.2980

Elahe Bagherinia, Amir Dehghani, Naser Khalili, Hamid Soraya, Morteza Bagheri

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Abstract

Background: The CYP2D6 gene locus is complex and highly polymorphic. Given the clinical importance of the CYP2D6 enzyme in liver xenobiotic metabolism, genotyping its significant alleles among different ethnic groups is essential for evaluating the efficacy of certain drugs. In this study, we assessed the frequency of the CYP2D6*4, *9, *10, and *41 alleles in a healthy population from northwestern Iran.

Methods: Fifty unrelated healthy individuals from West Azerbaijan Province, Iran, were studied using PCR-RFLP and ARMS-PCR techniques.

Results: CYP2D6*9 (rs5030656) allele was not detected. The frequency (%) of CYP2D6*4 (rs3892097), CYP2D6*10 (rs1065852) and CYP2D6*41 (rs28371725) alleles were 10%, 13% and 8%, respectively.

Conclusion: Our findings indicate that the frequencies of "non-functional" and "reduced function" alleles are relatively high in this population. Determining Cytochrome P450 2D6 allele variations can contribute to risk assessment and patient management regarding adverse or poor drug responses, ultimately aiding in the prevention of increased mortality risks among different populations.

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伊朗西北部健康人群细胞色素P450 2D6（*4, *9, *10, *41）等位基因的分布

背景：CYP2D6基因位点复杂且高度多态性。鉴于CYP2D6酶在肝脏外源代谢中的临床重要性，对不同种族的CYP2D6显著等位基因进行基因分型对评估某些药物的疗效至关重要。在这项研究中，我们评估了来自伊朗西北部健康人群中CYP2D6*4、*9、*10和*41等位基因的频率。方法：采用PCR-RFLP和ARMS-PCR技术对来自伊朗西阿塞拜疆省的50例无亲缘关系的健康人进行研究。结果：未检测到CYP2D6*9 （rs5030656）等位基因。CYP2D6*4 （rs3892097）、CYP2D6*10 （rs1065852）和CYP2D6*41 （rs28371725）等位基因的频率（%）分别为10%、13%和8%。结论：该人群中“无功能”和“功能还原”等位基因的频率较高。确定细胞色素P450 2D6等位基因变异有助于对不良或不良药物反应进行风险评估和患者管理，最终有助于预防不同人群中增加的死亡风险。

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