O uso de ferramentas de bioinformática no rastreamento de polimorfismos em genes de suscetibilidade para o parto prematuro

Abstract

The etiology of premature birth remains uncertain. Most studies in this area have highlighted the role of prenatal, social and maternal risk factors with spontaneous preterm birth. However, recent studies of molecular epidemiology have shown a possible interaction between molecular variants and the increased risk of premature birth. With the purpose of expanding knowledge about the molecular variants (single polymorphism polymorphisms / SNP) that contribute to the shortening of the gestational period, this study used bioinformatics tools to identify and characterize SNP with potential to stratify the risk for the occurrence of prematurity . To achieve this goal, candidate SNPs were tracked, previously associated with prematurity in different populations on the GWAS database website. For a detailed characterization of the selected polymorphisms, information was collected on the chromosomal location, gene location, frequency of the wild and mutant alleles on the GWAS and GeneCards sites. With this approach it was possible to identify 17 polymorphic loci, located in 6 genes (EBF1, EEFSEC, AGTR2, WNT4, ADCY5 and RAP2C) related to the gestational duration. Target genes for preterm delivery included EBF1, EEFSEC, AGTR2, WNT4, ADCY5 and RAP2C. Considering the inclusion and exclusion criteria adopted in this study, it is concluded that: (1) polymorphic variants in the EBF1, EEFSEC, AGTR2, WNT4, ADCY5 and RAP2C genes compromise the gestational duration; (2) whereas changes in the EBF1, EEFSEC and AGTR2 genes interfere with fetal development, resulting in the prematurity of the newborn