Case-control analysis reveals TNF polymorphism associated with increased risk of acute appendicitis, suggesting potential genetic markers.
Objectives Acute appendicitis (AA) is the primary cause of urgent surgery. The goal of this case-control study was to establish the possible associations of tumor necrosis factor (TNF), toll-like receptor-2 (TLR2), and toll-like receptor-4 (TLR4) gene polymorphisms in cases of AA in a Turkish population. Methods This prospective research was performed on 160 AA cases admitted into the Erciyes University Emergency Medicine Department. A total of 197 healthy volunteers were also included as a control group. TNF –308 G>A (rs1800629), TLR2 −196 to −174 del/ins (rs111200466), and TLR4 (Asp299Gly, 896A>G, rs4986790) polymorphisms were analyzed using real-time polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLR) methods. Results The TNF rs1800629 polymorphism had significant increases in the patient group’s A allele frequencies and AA genotype (p<0.001). However, for the TLR2 (−196 to −174 del/ins) and TLR4 Asp299Gly polymorphisms (p>0.05), no significant correlations were found in the genotype frequencies. Conclusions This research demonstrated that TNF −308G>A, but not the TLR2 (−196 to −174 del/ins) or TLR4 Asp299Gly variant, is a contributing factor to the susceptibility of AA development in the Turkish population.
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Aslan et al. (2025) studied this question.
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