Predicting the risk of congenital cleft lip and palate during pregnancy planning in patients residing in a polluted region using genetic markers

Publication date: 2022

DOI: 10.20953/1817-7646-2022-2-41-46

Abstract:

Objective. To predict the risk of congenital cleft lip and palate during pregnancy planning in patients residing in a polluted region using genetic markers. Materials and methods. This study included 45 women with children who had congenital cleft lip and palate. The control group comprised 119 donors of the Republican Blood Transfusion Station without cleft lip and palate who resided in the Republic of Bashkortostan. DNA was isolated from peripheral blood using standard phenol-chloroform extraction protocol. Polymorphic variants were assessed using polymerase chain reaction with locus-specific oligonucleotide primers. We analyzed the prevalence of genotypes and alleles of polymorphic loci in genes encoding glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase Pi 1 (GSTP1) to predict congenital cleft lip and palate. Results. The analysis of prevalence of genotypes and alleles of the glutathione S-transferase genes demonstrated that parents carrying deletions in the GSTM1 gene were more likely to have children with cleft lip and palate (OR = 2.65 (CI 95% 1.10–6.41), p = 0.028). We observed a significant association when comparing the allele frequencies. The frequency of deletion was 60.0% in parents with children who had congenital cleft lip and palate and 36.13% in the control group. The odds ratio in the parent group was 2.65 (CI 95% 1.42–4.95), p = 0.003. Significant differences were obtained in the additive model (OR = 2.21 (CI 95% 1.05–4.67), p = 0.038). The presence of the G allele more than doubled the odds of having a baby with congenital cleft lip and palate (OR = 2.21 (CI 95% 1.05–4.67), p = 0.038). Conclusion. Genotyping of the polymorphic locus rs1695 in the GSTP1 gene, as well as identification of GSTM1 gene deletions and AG or GG genotypes of the rs1695 locus in the GSTP1 gene can be used to predict the risk of congenital cleft lip and palate in a baby. © 2022, Dynasty Publishing House. All rights reserved.

Издатель: Dynasty Publishing House

Тип: Article