# GATA6 and TBX3 gene expressions analysis of indirect inguinal hernia sacs in children

**Authors:** Oguz Kizilkaya, Mehmet Said Koprulu, Hakan Gurkan, Mustafa Inan

PMC · DOI: 10.1007/s00383-025-06065-z · Pediatric Surgery International · 2025-07-07

## TL;DR

This study found that GATA6 and TBX3 gene expression levels differ in hernia sacs of children, suggesting a possible role in the development of inguinal hernias.

## Contribution

The study provides new insights into the genetic factors potentially involved in the etiology of indirect inguinal hernias in children.

## Key findings

- GATA6 gene expression was significantly higher in hernia sacs compared to controls.
- TBX3 gene expression was significantly lower in hernia sacs compared to controls.
- No significant differences were found in genotype or allele frequencies of the studied SNPs between groups.

## Abstract

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.

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.

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.

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.

## Linked entities

- **Genes:** GATA6 (GATA binding protein 6) [NCBI Gene 2627], TBX3 (T-box transcription factor 3) [NCBI Gene 6926]

## Full-text entities

- **Genes:** TBX3 (T-box transcription factor 3) [NCBI Gene 6926] {aka TBX3-ISO, UMS, XHL}, GATA6 (GATA binding protein 6) [NCBI Gene 2627]
- **Diseases:** IIH (MESH:D006552)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs1040912117, rs1416421760, rs968910973

## Full text

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## References

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Source: https://tomesphere.com/paper/PMC12234625