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2020, Number 1

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Rev Cub Gen 2020; 13 (1)

-308A>G polymorphism in the promoter region of the tumor necrosis factor alpha gene in the Cuban population

Sotomayor LF, Marcheco TB, Rodríguez MK, Esperón ÁA, López RI, Azanza RJ

Language: Spanish
References: 17
Page: 1-10
PDF size: 435.79 Kb.


ABSTRACT

Introduction: Tumor necrosis factor alpha (TNFα) is a proinflammatory cytokine in whose gene -308A>G polymorphism has been reported. No population genetics reports of this variant are available in Cuba which would allow characterization of molecular immunogenetic profiles for their use in allelic association studies.
Objectives: Describe the gene and genotype frequencies of TNFα (-308A>G) polymorphism in the Cuban population.
Methods: A cross-sectional observational descriptive study was conducted from October 2017 to March 2018 of 162 healthy Cuban neonates of both sexes for neonatal screening of metabolic diseases, whose biological samples were kept in the DNA bank of the National Center for Medical Genetics. Molecular characterization of the genotypes was performed by PCR-ARMS. The software GENEPOP 4.4 and the statistics package STATISTICA 8.0 were used for population genetics analysis.
Results: The study population did not adjust to the Hardy-Weinberg equilibrium model for the gene evaluated. The gene frequencies estimated for TNFα (-308A>G) polymorphism were 0.09 for allele A and 0.91 for allele G. Estimation of genotype frequencies was 0.03, 0.84 and 0.13 for variants AA, GG and AG, respectively.
Conclusions: Allele G and genotype GG of TNFα (-308A>G) polymorphism display a higher frequency in the study population. The behavior of TNFα.A gene frequencies and the genotype frequencies of TNFα.AA individuals define it as a low-prevalence allele in the population.


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