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NOD2/CARD15 rs2066845 Polymorphism in Children with Acute Appendicitis.

Sevgi Buyukbese Sarsu, Senay Gorucu Yilmaz, Ali Bayram, Semih Dalkilic

Background: Innate immunity is extremely important in the antimicrobial defense mechanism of the human body. Innate immunity genes are known to effect the severity of Acute Appendicitis (AA). NOD2⁄CARD15 gene has a function in innate immune system, and it is expressed in large amounts in antigen-presenting macrophage-like cells, and intestinal Paneth cells. NOD2⁄CARD15 polymorphism can be a risk factor for other diseases of the gastrointestinal system. rs2066845 polymorphism on this gene has been correlated with Crohn's disease, and development of rejection after intestinal transplantation. This mechanism has the similar action in AA and this polymorphism may be effective on AA and provide a new data to stimulate future debate and genetic investigations of AA, particularly in accessible peripheral tissues for AA.

Methods:Study population consisted of 50 children with AA, and 49 healthy children. DNA was extracted from peripheral blood lymphocytes. The rs2066845 is localized on NOD2/ CARD15 gene and was analyzed using PCR (Polymerase Chain Reaction), and RFLP (Restriction Fragment Length Polymorphism) techniques. Results: A statistically significant difference did not exist between the patient and the control groups as for age, and gender of the study participants (p>0.05). Besides, a correlation was not detected between groups for age, gender, routine laboratory parametres, and allelegenotype frequencies. In the study group, allele, and genotype frequencies did not differ as for NOD2 polymorphism (p>0.05). The genotype frequencies of patient group were in Hardy-Weinberg equilibrium (HWE) but not in the patient group.

Conclusion: Although NOD2⁄CARD15 polymorphism is a biologically important SNP in inflammatory bowel diseases (IBDs), in our study, it was not determined as a risk factor for AA. Data retrieved from investigation of this SNP may a knowledge for genetic researches to be performed for AA. Besides, researchers may focus on new molecular alternatives, and investigate other SNPs of the NOD2 gene.