A novel p.S34N mutation of CAMP gene in patients with periodontal disease Oya Tu ¨ rkog ˘ lu a, *, Afig Berdeli b , Gu ¨ lnur Emingil a , Gu ¨ l Atilla a a Department of Periodontology, School of Dentistry, Ege University, Bornova 35100, Izmir, Turkey b Molecular Medicine Laboratory, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey 1. Introduction Periodontitis is a multifactorial inflammatory disease that involves microbial dental plaque, genetic and environmen- tal factors, and affects the supporting tissues of teeth. 1 Tissue destruction in periodontitis depends on the balance between both host protective and destructive mechanisms. 2 The innate immune response has a primary role in the defense against plaque-associated bacteria. 3,4 In addition, inflammatory and immune processes protecting the gingi- val tissues against microbial attack are harmful to the host in that inflammation can contribute to the tissue injury observed in periodontitis. 5 Chronic periodontitis is the common form of periodontitis and has a slow on-going course. 6,7 Aggressive type of periodontitis is the severe form of the periodontal diseases affecting mainly young subjects, and have a rapid attachment loss and bone resorption. 8 In addition, aggressive periodontitis subjects present polymor- phonuclear leucocyte defects that can produce high levels inflammatory mediators. 9 archives of oral biology 56 (2011) 573–579 article info Article history: Accepted 15 November 2010 Keywords: Cathelicidin antimicrobial peptide Mutation Periodontitis abstract Objective: Recent studies have showed that genetic factors involved in the host responses might determine the severity of periodontitis. hCAP-18/LL-37 is a part of the innate immune response in the oral cavity. The aim of the present study was to investigate the mutation of CAMP gene encoding hCAP-18/LL-37 in the patients with different periodontal diseases. Design: Seventy-eight chronic periodontitis, 72 generalized aggressive periodontitis, and 149 controls were analysed for mutation of CAMP gene using direct DNA sequencing method. Frequencies of p.S34N mutation were compared by Pearson chi-square test. Logistic regres- sion analysis was used to analyse the association between periodontitis and p.S34N muta- tion adjusting for bleeding on probing, age and gender. Results: Twenty-five subjects had a novel missense mutation of CAMP gene. Single base substitution (c.101G>A) in exon 1 led to p.S34N mutation. All amino acid substitutions were heterozygous mutation. The patients with generalized aggressive periodontitis had signifi- cantly higher p.S34N mutation prevalence compared to the others, whilst there was no significant difference in prevalence of p.S34N mutation between the patients with chronic periodontitis and the control subjects. Logistic regression analysis adjusted for BOP, age and gender revealed that the patients with generalized aggressive periodontitis were 5.32 times more likely to have p.S34N mutation compared to the controls (OR = 5.32, 95% CI: 1.3–22.1). Conclusion: We report a novel missense mutation of CAMP gene. p.S34N mutation in CAMP gene seems to be contributing factor for generalized aggressive periodontitis, but not for chronic periodontitis. # 2010 Elsevier Ltd. All rights reserved. * Corresponding author. Tel.: +90 232 3881105; fax: +90 232 3880325. E-mail address: oya_t@yahoo.com (O. Tu ¨ rkog ˘ lu). available at www.sciencedirect.com journal homepage: http://www.elsevier.com/locate/aob 0003–9969/$ – see front matter # 2010 Elsevier Ltd. All rights reserved. doi:10.1016/j.archoralbio.2010.11.016