Common genetic risk variants ofTLR2 are not associated with periodontitis in large European case-control populations

Aim Involvement of TLR2 in the pathophysiology of periodontitis has widely been discussed, but hitherto, no validated genetic associations were reported. Previous association studies lacked sufficient statistical power and adequate haplotype information to draw unambiguous conclusions. The aim of this study was to comprehensively investigate TLR 2 linkage disequilibrium ( LD ) regions for their potential associations with periodontitis in two large analysis populations of aggressive ( AgP ) and chronic periodontitis ( CP ) of North West European descent. Materials and methods The study population comprised 598 AgP patients, 914 CP patients and 1804 healthy controls. Analysis of TLR 2 LD regions was performed with haplotype tagging SNP s (tagSNPs) using SNPlex and TaqMan genotyping assays. Genotypic, dominant, multiplicative, and recessive genetic models were tested. The genotypes were adjusted for the covariates smoking, diabetes, and gender. Resequencing was performed by Sanger technology. Results Upon covariate adjustment and correction for multiple testing, no tagSNPs showed significant associations with AgP or CP . Targeted resequencing of exon 3 in 47 AgP cases identified carriership of two common and three rare variants. Conclusion Common LD regions of TLR 2 do not show genetic associations with periodontitis in the North West E uropean population. Resequencing of exon 3 could not identify disease‐associated rare variants in TLR 2.