Investigation of vgll3 and sub-target genes in the etiology of acute appendicitis

Acute appendicitis (AA) is the most common emergency surgical pathology in the pediatric age group. Diet, intestinal microbiota and genetic factors responsible for inflammation are effective in the etiology of AA. Vestigial like family member 3 (VGLL3) and its sub-target genes have been determined to have significant transcriptomic overlap with inflammatory processes that cause many autoimmune diseases. In this study, we investigated the role of VGLL3 rs13074432 polymorphism and its sub-target genes in the etiology of AA. 250 patients aged 0-18 years, who underwent appendectomy with the diagnosis of AA (patient group), and 200 healthy children (control group) without a history of appendectomy in themselves or their first-degree relatives were included in the study. While both blood and appendix tissue samples were collected from the patient group, only blood samples were taken from the control group. ELISA method was used for protein level detection of VGLL3 expression change in obtained tissue samples, and Real-Time Quantitative Reverse Transcription polymerase chain reaction (qRT-PCR) was used for mRNA level detection. VGLL3 sub-target genes were analyzed at the mRNA level by qRT-PCR. Genotyping analyzes were performed on DNA samples isolated from blood using TaqMan SNP genotyping test. It was determined that the frequency of TT variant genotype and T allele decreased statistically in the patient group compared to the control group (p=0.000 for genotypes, p=0.002 for alleles). No significant correlation was observed between the expression of VGLL3 in the appendiceal tissue and the clinical and demographic data of the patient (p>0.05). In conclusion, this study revealed that the VGLL3 gene and its sub-target genes are associated with the etiology of AA. More prospective genetic studies are needed to evaluate the potential development of appendicitis in cases with positive VGLL3 gene and subgroups and to evaluate the treatment option in subclinical conditions.