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Article

Frequency of CYP2C9 Promoter Variable Number Tandem Repeat Polymorphism in a Spanish Population: Linkage Disequilibrium with CYP2C9*3 Allele

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Departamento de Terapéutica Médico-Quirúrgica, Centro Universitario de Plasencia, Universidad de Extremadura, Avda. Virgen del Puerto s/n, 10600 Plasencia, Spain
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Instituto Universitario de Investigación Biosanitaria de Extremadura (INUBE), Avenida de la Investigación s/n, 06071 Badajoz, Spain
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Bioscience Applied Techniques Services, Servicio de Apoyo a la Investigación, Universidad de Extremadura, Avenida de la Investigación s/n, 06071 Badajoz, Spain
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Nephrology Department, Virgen del Puerto Hospital, Servicio Extremeño de Salud, 10600 Plasencia, Spain
*
Author to whom correspondence should be addressed.
Academic Editor: Angelos Halaris
J. Pers. Med. 2022, 12(5), 782; https://doi.org/10.3390/jpm12050782
Received: 13 March 2022 / Revised: 2 May 2022 / Accepted: 10 May 2022 / Published: 12 May 2022
(This article belongs to the Section Pharmacogenetics)
Background: A promoter variable number tandem repeat polymorphism (pVNTR) of CYP2C9 is described with three types of fragments: short (pVNTR-S), medium (pVNTR-M) and long (pVNTR-L). The pVNTR-S allele reduces the CYP2C9 mRNA level in the human liver, and it was found to be in high linkage disequilibrium (LD) with the CYP2C9*3 allele in a White American population. The aim of the present study is to determine the presence and frequency of CYP2C9pVNTR in a Spanish population, as well as analyzing whether the pVNTR-S allele is in LD with the CYP2C9*3 allele in this population. Subjects and Methods: A total of 209 subjects from Spain participated in the study. The CYP2C9 promoter region was amplified and analyzed using capillary electrophoresis. Genotyping for CYP2C9*2 and *3 variants was performed using a fluorescence-based allele-specific TaqMan allelic discrimination assay. Results: The frequencies of CYP2C9pVNTR-L, M and S variant alleles are 0.10, 0.82 and 0.08, respectively. A high LD between CYP2C9pVNTR-S and CYP2C9*3 variant alleles is observed (D’ = 0.929, r2 = 0.884). Conclusion: The results from the present study show that both CYP2C9pVNTR and CYP2C9*3 are in a high LD, which could help to better understand the lower metabolic activity exhibited by CYP2C9*3 allele carriers. These data might be relevant for implementation in the diverse clinical guidelines for the pharmacogenetic analysis of the CYP2C9 gene before treatment with different drugs, such as non-steroidal anti-inflammatory drugs, warfarin, phenytoin and statins. View Full-Text
Keywords: CYP2C9; promoter variable tandem repeat polymorphism; pVNTR; linkage disequilibrium CYP2C9; promoter variable tandem repeat polymorphism; pVNTR; linkage disequilibrium
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MDPI and ACS Style

Dorado, P.; Santos-Díaz, G.; Gutiérrez-Martín, Y.; Suárez-Santisteban, M.Á. Frequency of CYP2C9 Promoter Variable Number Tandem Repeat Polymorphism in a Spanish Population: Linkage Disequilibrium with CYP2C9*3 Allele. J. Pers. Med. 2022, 12, 782. https://doi.org/10.3390/jpm12050782

AMA Style

Dorado P, Santos-Díaz G, Gutiérrez-Martín Y, Suárez-Santisteban MÁ. Frequency of CYP2C9 Promoter Variable Number Tandem Repeat Polymorphism in a Spanish Population: Linkage Disequilibrium with CYP2C9*3 Allele. Journal of Personalized Medicine. 2022; 12(5):782. https://doi.org/10.3390/jpm12050782

Chicago/Turabian Style

Dorado, Pedro, Gracia Santos-Díaz, Yolanda Gutiérrez-Martín, and Miguel Á. Suárez-Santisteban. 2022. "Frequency of CYP2C9 Promoter Variable Number Tandem Repeat Polymorphism in a Spanish Population: Linkage Disequilibrium with CYP2C9*3 Allele" Journal of Personalized Medicine 12, no. 5: 782. https://doi.org/10.3390/jpm12050782

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