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GATA6 and TBX3 gene expressions analysis of indirect inguinal hernia sacs in children
Oguz Kizilkaya1, Mehmet Said Koprulu2, Hakan Gurkan3
1Department of Pediatric Surgery, Faculty of Medicine, Trakya University, Edirne, Türkiye.
Insights
Altered expression of GATA6 and TBX3 genes in hernia sacs may contribute to indirect inguinal hernia (IIH) in children. This study examined gene expression and found significant changes in GATA6 and TBX3 levels in IIH patients.
Area of Science:
- Pediatric Surgery
- Molecular Biology
- Genetics
Background:
- Indirect inguinal hernia (IIH) is a common childhood surgical condition.
- The precise etiology of IIH remains incompletely understood.
- Understanding the molecular mechanisms underlying IIH is crucial for potential therapeutic targets.
Purpose of the Study:
- To investigate the expression levels of GATA6 and TBX3 genes in hernia sacs of children with IIH.
- To explore the role of these genes in the pathogenesis of indirect inguinal hernia.
- To analyze single nucleotide polymorphisms (SNPs) in GATA6 and TBX3 genes in relation to IIH.
Main Methods:
- Cross-sectional study comparing 20 boys with IIH to 20 controls.
- Gene expression analysis of GATA6 and TBX3 in hernia sacs and prepuces.
- DNA sequencing for GATA6 (rs1416421760, rs1040912117) and TBX3 (rs968910973) single nucleotide polymorphisms.
- Statistical analysis using the Mann-Whitney U test.
Main Results:
- GATA6 gene expression was significantly increased (p < 0.001) in the IIH group.
- TBX3 gene expression was significantly decreased (p < 0.001) in the IIH group.
- No statistically significant differences were observed in genotype or allele frequencies for the studied SNPs between groups.
Conclusions:
- Dysregulation of GATA6 and TBX3 gene expression may play a role in the development of indirect inguinal hernia.
- Altered apoptotic pathways mediated by GATA6 and TBX3 could contribute to IIH pathogenesis.
- Further research is warranted to elucidate the precise molecular mechanisms involved in IIH development.
Purpose:
The aim of the study is to examine the expression levels of the GATA6 and TBX3 genes in hernia sacs from patients with indirect inguinal hernia (IIH) in the Trakya region, Türkiye and shed light on the etiology of this common surgical disease in childhood.
Materials And Methods:
In this cross-sectional study, GATA6 and TBX3 gene expression and single nucleotide polymorphism analyses were conducted on tissue samples obtained from 20 boys with IIH (study group) and 20 circumcised children (control group) who were operated in Trakya University Hospital, Pediatric Surgery Clinic. The tissue samples were collected from IIH sacs and prepuces. RNA isolation from tissue and complementary DNA (cDNA) synthesis were performed in accordance with the protocols of the kits used. In the DNA sequence variants (DSVs) study, DNA isolation was performed in accordance with the protocol of the kit used Allelic discrimination was also performed for the GATA6 rs1416421760 and rs1040912117 and TBX3 rs968910973 DVSs. Mann-Whitney U test was used to statistically compare the outcomes.
Results:
The expression of GATA6 demonstrated a significant increase (p < 0.001), while TBX3 expression exhibited a significant decrease (p < 0.001) in the study group. In terms of genotype and allele frequencies of GATA6 rs1416421760, rs1040912117, and TBX3 rs968910973 DSVs, no statistically significant difference was found between the study and control groups.
Conclusion:
According to the results of the study, it can be asserted that dysfunctions in the GATA6 and TBX3-mediated stages of the apoptotic pathway may contribute to the development of IIH.

