Investigation of VGLL3 and sub-target genes in the aetiology of acute appendicitis

Abstract Purpose: Vestigial like family member 3(VGLL3) and its sub-target genes have been determined to have significant transcriptomic overlap many autoimmune and inflammatory diseases. In this study, we investigated the role of VGLL3 rs13074432 polymorphism and its sub-target genes in the etiology of acute appendicitis (AA). Methods: 250 patients aged 0-18 years, who underwent appendectomy with the diagnosis of AA (patient group; blood and appendix tissue samples), and 200 healthy children (control group; only blood samples) without appendectomy were included in the prospective case-control study. ELISA method was used for protein level detection of VGLL3 and sub-target genes expression change in obtained tissue samples, and Real-Time Quantitative Reverse Transcription polymerase chain reaction (qRT-PCR) was used for mRNA level detection. Genotyping analyses were performed on DNA samples isolated from blood using TaqMan SNP genotyping test. Results: The frequency of TT variant genotype (p=0.000) and T allele (p=0.002) decreased statistically in the patient group compared to the control. 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). Conclusion: This study revealed that the VGLL3 gene and its sub-target genes are associated with the etiology of AA.