title: Polymorphisms in the IL-6 and IL-6R receptor genes as new diagnostic biomarkers of acute appendicitis: a study on two candidate genes in pediatric patients with acute appendicitis.
abstract: BACKGROUND
  Acute 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.
  
  
  METHODS
  A 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).
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  This 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.
  
  
  CONCLUSIONS
  Given 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.
authors.affiliation: Department of Pediatric Surgery, Gaziantep Children Hospital, Gaziantep, 27560, Turkey. sarsusevgi@yahoo.com.tr.
authors.forename: Sevgi Büyükbeşe
authors.initials: SB
authors.lastname: Sarsu
authors.affiliation: Department of Nutrition and Dietetics, Faculty of Health Sciences, Gaziantep University, Gaziantep, 27310, Turkey. gorucu@gantep.edu.tr.
authors.forename: Şenay Görücü
authors.initials: ŞG
authors.lastname: Yılmaz
authors.affiliation: Department of Medical Biology and Genetics, Elazığ High School of Health Sciences, Fırat University, Elazığ, 23100, Turkey. abayram@firat.edu.tr.
authors.forename: Ali
authors.initials: A
authors.lastname: Bayram
authors.affiliation: Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Fırat University, Elazığ, 23100, Turkey. affandenk@firat.edu.tr.
authors.forename: Affan
authors.initials: A
authors.lastname: Denk
authors.affiliation: Department of Medical Biology and Genetics, Elazığ High School of Health Sciences, Fırat University, Elazığ, 23100, Turkey. kkargun@firat.edu.tr.
authors.forename: Kürşat
authors.initials: K
authors.lastname: Kargun
authors.affiliation: Department of Biostatistics and Medical Informatics, Faculty of Medicine, Düzce University, Düzce, 81620, Turkey. malisungur@yahoo.com.
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Sungur
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000483:Alleles; D001064:Appendicitis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D019947:Receptors, Interleukin-6 / Q000235:genetics* / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; C508600:IL6 protein, human; C508603:IL6R protein, human; D015850:Interleukin-6; D019947:Receptors, Interleukin-6; D004247:DNA