Abstract

BackgroundAcute appendicitis (AA) (OMIM: 107700) is an inflammatory disease which is characterized by appendiceal inflammation. Genetic and environmental factors contribute to the development of AA. Especially, multiple genetic factors appear to be promising in the explanation of etiopathogenesis of AA. IL-6 (Interleukin-6) is an inflammatory cytokine and IL-6 receptor (IL-6R) plays an important role in the immune response. IL-6 (-572G/C rs1800796) and IL-6R (1:G.154448302 T > C rs7529229) gene polymorphisms may have an impact on cytokine production, immune response and these gene polymorphisms may be used as inflammatory markers in the diagnosis of appendicitis.MethodA total of 75 children with appendicitis, and 75 healthy children were included in the study. DNA extracts were obtained from peripheral lymphocytes. Single-nucleotide polymorphisms (SNPs) were analysed using an automated SYBR® Green RT-PCR system in pediatric patients with appendicitis (n = 75) and healthy controls (n = 75).ResultsThe allele and genotype frequencies for IL-6 rs1800796 and IL-6R rs7529229 polymorphisms were not different between the study groups (p > 0.05). Any statistically significant differences as for age, sex and other laboratory factors were not detected between the patients with appendicitis for genotype-allele frequencies (p > 0.05). Still in analyses performed to determine correlations among age, and gender of the patients, routine laboratory parameters and allele-genotype frequencies, a statistically significant intergroup difference was not detected. Genotype and allele frequencies were consistent with Hardy-Weinberg equilibrium (HWE) in all groups.DiscussionThis is the first study to investigate the effects of functional two polymorphisms on IL-6 and IL-6R genes in a pediatric patient group with AA risk. With this study we investigated the contribution of IL-6 (-572G/C rs1800796) and IL-6R (1:G.154448302 T > C rs7529229) polymorphisms on pathogenesis, and severity of AA in pediatric patients with AA: These results will guide further genetic researches to be performed on the role of IL-6 and IL-6R in AA.ConclusionsGiven the putative biological importance of this SNPs, these emerging data can provide a new foundation to stimulate future debate and genetic investigations of AA, focusing on new molecular mechanisms such as other IL gene polymorphisms, particularly in accessible peripheral tissues for novel molecular diagnostics for appendicitis.

Highlights

  • Acute appendicitis (AA) (OMIM: 107700) is an inflammatory disease which is characterized by appendiceal inflammation

  • We examined the role of rs1800796 and rs7529229 functional polymorphisms in pediatric patients who underwent appendectomy with diagnosis of appendicitis

  • single- nucleotide polymorphism (SNP) frequencies on the IL-6 and IL-6 receptor (IL-6R) genes in patients and controls, and the different characteristics of patients with appendicitis are shown in Tables 1 and 2

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Summary

Introduction

Acute appendicitis (AA) (OMIM: 107700) is an inflammatory disease which is characterized by appendiceal inflammation. T > C rs7529229) gene polymorphisms may have an impact on cytokine production, immune response and these gene polymorphisms may be used as inflammatory markers in the diagnosis of appendicitis. Acute Appendicitis (AA) is a condition characterized by inflammation of the appendix accompanied by systemic inflammatory response [1]. Researchers conducted so far have demonstrated the impact of age, gender, segregation, socio-economic status, nutritional habits and genetic factors on the development of acute appendicitis [8, 9]. Immune response and inflammatory factors are important in the inflammatory appendix [11] These factors demonstrate the importance of cytokines in determining the course of appendicitis. Meta-analyses have demonstrated the correlations between these polymorphisms and chronic inflammatory diseases [16]

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