# Analysis of CYP2D6 Gene Variant Frequencies in Iranian Population

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

PMC · DOI: 10.30476/ijms.2024.102645.3570 · 2025-05-01

## TL;DR

This study examines the frequency of specific CYP2D6 gene variants in the Iranian population to understand their impact on drug metabolism and personalized medicine.

## Contribution

The study identifies the absence of risk alleles for four rare CYP2D6 variants in the Iranian population, contributing to personalized medicine insights.

## Key findings

- Normal alleles were highly frequent for all four studied CYP2D6 variants in the Iranian population.
- Risk alleles for the studied variants were absent in the Iranian population.
- The Iranian population has a typical genetic makeup for these CYP2D6 variations.

## Abstract

The cytochrome P450 (P450s or CYPs) enzyme family, particularly CYP2D6, 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 CYP2D6 genotypes, this study aimed to assess the prevalence of rare CYP2D6 star alleles, including rs267608319 (CYP2D6*31),
rs1931013246 (CYP2D6*55), rs569439709 (CYP2D6*113), and rs747089665 (CYP2D6*135), within the Iranian population.

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.

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.

The Iranian population has a typical genetic makeup for CYP2D6 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.

## Linked entities

- **Genes:** CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)) [NCBI Gene 1565]

## Full-text entities

- **Genes:** CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)) [NCBI Gene 1565] {aka CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2}
- **Mutations:** rs747089665, rs1931013246, rs569439709, rs267608319

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12104541/full.md

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Source: https://tomesphere.com/paper/PMC12104541