Objectives: This study aimed at investigating the possible role of IL-6 genetic polymorphisms and haplotypes in the predisposition to Aggressive Periodontitis (AgP).
Methods: A case- control association study on 224 AgP patients and 231 healthy controls was performed to detect differences in genotype distributions of 5 single nucleotide polymorphisms (SNPs) located in the IL-6 gene promoter (-174, -572, -1363, -1480 and -6106). The possible effect of each SNP was investigated (by SPSS software), together with the effect of their combinations (haplotypes) (by WHAP package).
Results: All studied SNPs exhibited linkage disequilibrium between them. The most remarkable associations with the disease phenotype were detected between the -1480 polymorphism and LAgP, in subjects of mixed ethnicities (p= 0.003 at logistic regression adjusting for gender, ethnicity and smoking) and Caucasians (p=0.010, adjusting for gender and smoking). Haplotypes determined by the -1363 and -1480 SNPs were associated with LAgP (p=0.001 adjusting for gender and smoking) in Caucasians.
Conclusions: this study supports the importance of Interleukin-6 polymorphisms (at position -1363 and -1480) in Aggressive Periodontitis and highlights the importance of IL-6 haplotypes in determining disease susceptibility.