TPMTgene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population

Author:

Mora Yuselin1ORCID,Villegas Cecilia1ORCID,Mora Yamile M1ORCID,Moreno Nancy1ORCID

Affiliation:

1. Instituto de Investigaciones Biomédicas ‘Dr. Francisco J. Triana Alonso’ (BIOMED) - Sección de Polimorfismos Genómicos, Facultad de Ciencias de la Salud, Universidad de Carabobo, Sede Aragua, Maracay, 2102, Venezuela

Abstract

Background: The presence of polymorphisms in the TPMT gene is associated with adverse effects in patients treated with standard doses of thiopurine drugs. Scientific evidence recognizes significant ethnic differences in their frequencies and how their early identification can prevent clinical complications. Methods: 150 healthy residents of Aragua, Venezuela were enrolled. The SNPs c.460G>A and c.719A>G were detected by PCR–restriction fragment length polymorphism assay and c.238G>C by allele-specific PCR. Results: All genotype polymorphisms were heterozygous. TPMT*1/*3A, TPMT*1/*3C and TPMT*1/*2 genotypes were found in 4.0, 2.0 and 0.7%, respectively. Conclusion: 6.7% of individuals have an intermediate TPMT activity. These findings support the importance of prior genotyping of TPMT in Venezuelan patients who require thiopurine drug therapy.

Funder

Fondo Nacional de Ciencia, Tecnología e Innovación

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

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