Purpose: Vestigial like family member 3(VGLL3) and its sub-target genes have been determined to have signi cant transcriptomic overlap many autoimmune and in ammatory 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 signi cant 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.diet [11] and is associated with in ammation of the appendix and not with colonic in ammation [12]. Vestigial like family member 3 (VGLL3) transcriptional factor is involved in the expression of PITX2, which is shown to be associated with Enterobacteriaceae density in the intestinal tract during in ammation [13,14].The human VGLL3 gene is cytogenetically located at 3p12.1. RS13074432 polymorphism in the VGLL3 gene is located in the 3-untranslated region (3'-UTR) of the gene. Studies have reported that VGLL3 is involved in autoimmune diseases and in ammatory processes [15, 16]. VGLL is activated on the Hippo signalling pathway by connecting to a transcription factor known as Transcriptional enhancer factor domain. The Hippo signalling pathway is involved in basic processes such as organ size regulation, cell proliferation and cell death during organ development [17, 18]. At a genome-wide level, genes regulated by VGLL3 showed a strong association with many autoimmune diseases and had a pronounced transcriptomic overlap with in ammatory processes. Furthermore, studies have reported its association to the nucleus in actively in amed tissue as a transcription factor because of the translocation of VGLL3. VGLL3 appeared to be necessary for optimal response to monocytes and the interferons in salivary gland cells [15, 16,19].The purpose of the present study was to investigate the polymorphic variant rs13074432 of the gene VGLL3, which was known to be associated with autoimmunity and in ammation, and the sub-target genes AJUBA, AMOLT2 and PITX3 for their association with the aetiology of AA.
Methods
Study designStudy approval was obtained from xxx University Medical Faculty's N...