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Research ArticleOriginal Article
Open Access

CYP2D6 genetic polymorphisms in Saudi systemic lupus erythematosus patients

A cross-sectional study

Lena M. Hassen, Maha H. Daghestani, Mohammed A. Omair, Arwa K. Althomali, Fatimah B. Almukaynizi and Ibrahim A. Almaghlouth
Saudi Medical Journal March 2023, 44 (3) 237-245; DOI: https://doi.org/10.15537/smj.2023.44.3.20220581
Lena M. Hassen
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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  • For correspondence: [email protected] [email protected]
Maha H. Daghestani
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Mohammed A. Omair
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Arwa K. Althomali
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Fatimah B. Almukaynizi
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Ibrahim A. Almaghlouth
From the Department of Zoology (Hassen, Daghestani), College of Sciences; from the Department of Medicine (Hassen, Omair, Almaghlouth), Rheumatology Unit; from the College of Medicine Research Center (Almaghlouth), College of Medicine; and from Prince Naif for Health Research Center (Althomali, Almukaynizi), King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Abstract

Objectives: To determine the prevalence of selected single nucleotide polymorphisms (rs1080985, rs28624811, rs1065852, rs28371725, and rs1135840) in cytochrome P450 2D6 (CYP2D6) gene among Saudi systemic lupus erythematosus (SLE) patients and to investigate the association between the genetic variants and clinical features of SLE.

Methods: This cross-sectional study was carried out on adult Saudi patients at King Khalid University Hospital, Riyadh, Saudi Arabia. Patients with confirmed SLE based on the 2012 Systemic Lupus International Collaborating Clinics classification criteria were included in the study. Peripheral blood was collected for genomic deoxyribonucleic acid extraction and TaqMan® technologies were used for target genotyping. For statistical analysis, differences in genotype frequencies were determined using the Chi-square test, and the association between the variant genotypes and SLE features was evaluated using logistical regression models.

Results: There were 107 participants included in this study. Overall, the most predominant (23.4%) recessive genotype was AA in rs28624811, and the least prevalent (1.9%) recessive genotype was TT in rs28371725. Moreover, the variant rs1080985 genotypes (GC or CC) were significantly associated with the presence of serositis manifestation (OR=3.15, p=0.03), even after adjusting for age and gender. However, the dominant rs28624811 genotype (GG) was associated with renal involvement (OR=2.56, p=0.03).

Conclusion: Systemic lupus erythematosus patients carrying CYP2D6 variants might be considered at risk for certain manifestations of SLE. Further studies are needed to investigate the implication of these genetic variations in clinical outcomes and drug response.

Keywords:
  • cytochrome P450
  • genotyping
  • risk allele
  • lupus
  • clinical features

Footnotes

  • Disclosure. Authors have no conflict of interests, and the work was not supported or funded by any drug company.

  • Received August 24, 2022.
  • Accepted January 22, 2023.
  • Copyright: © Saudi Medical Journal

This is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

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Saudi Medical Journal: 44 (3)
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CYP2D6 genetic polymorphisms in Saudi systemic lupus erythematosus patients
Lena M. Hassen, Maha H. Daghestani, Mohammed A. Omair, Arwa K. Althomali, Fatimah B. Almukaynizi, Ibrahim A. Almaghlouth
Saudi Medical Journal Mar 2023, 44 (3) 237-245; DOI: 10.15537/smj.2023.44.3.20220581

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CYP2D6 genetic polymorphisms in Saudi systemic lupus erythematosus patients
Lena M. Hassen, Maha H. Daghestani, Mohammed A. Omair, Arwa K. Althomali, Fatimah B. Almukaynizi, Ibrahim A. Almaghlouth
Saudi Medical Journal Mar 2023, 44 (3) 237-245; DOI: 10.15537/smj.2023.44.3.20220581
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Keywords

  • cytochrome P450
  • genotyping
  • risk allele
  • lupus
  • clinical features

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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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