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

Overview

Journal J Pers Med

Date 2022 May 28

PMID 35629204

Authors

Pedro Dorado

Gracia Santos-Diaz

Yolanda Gutierrez-Martin

Miguel Angel Suarez-Santisteban

Affiliations

Soon will be listed here.

Abstract

Background: A promoter variable number tandem repeat polymorphism (pVNTR) of is described with three types of fragments: short (), medium () and long (). The allele reduces the mRNA level in the human liver, and it was found to be in high linkage disequilibrium (LD) with the allele in a White American population. The aim of the present study is to determine the presence and frequency of in a Spanish population, as well as analyzing whether the allele is in LD with the allele in this population.

Subjects And Methods: A total of 209 subjects from Spain participated in the study. The promoter region was amplified and analyzed using capillary electrophoresis. Genotyping for and variants was performed using a fluorescence-based allele-specific TaqMan allelic discrimination assay.

Results: The frequencies of , and variant alleles are 0.10, 0.82 and 0.08, respectively. A high LD between and variant alleles is observed (D' = 0.929, r = 0.884).

Conclusion: The results from the present study show that both and are in a high LD, which could help to better understand the lower metabolic activity exhibited by allele carriers. These data might be relevant for implementation in the diverse clinical guidelines for the pharmacogenetic analysis of the gene before treatment with different drugs, such as non-steroidal anti-inflammatory drugs, warfarin, phenytoin and statins.

Citing Articles

The Association Between Promoter Tandem Repeat Polymorphism (pVNTR) and CYP2C9 Gene Expression in Human Liver Samples.

Montalvo A, Gong Y, Collins J, Wang D Genes (Basel). 2025; 16(2).

PMID: 40004542 PMC: 11855013. DOI: 10.3390/genes16020213.

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