Cathepsin C gene variants in aggressive periodontitis

B. Noack*, H. Görgens, U. Hempel, J. Fanghänel, Th Hoffmann, A. Ziegler, H. K. Schackert

*Corresponding author for this work
20 Citations (Scopus)


Cathepsin C (CTSC) mutations are known to cause Papillon-lefèvre syndrome. The aim of this study was to examine the association of CTSC genotype with susceptibility to non-syndromic aggressive periodontitis. The CTSC gene was analyzed in 110 persons with generalized aggressive periodontitis in comparison with 78 control individuals, after identifying different variants in a cohort of 100 persons. Five out of 19 discovered variants were included in this association study, representing 5 singlc-nucleotidc polymorphism groups in tight linkage disequilibrium. The relevance of genotypes on enzyme function was examined. The carrier frequency of the missense variant p.I453V was significantly increased in persons with disease compared with healthy control individuals (17.3% vs. 6.4%, p < 0.05). CTSC activity in leukocytes from individuals harboring this variant was significantly reduced (119.8 AOD/min*105 cells, 95% confidence interval 17.4-174.9, p = 0.018). No influence of promoter variants was found on m RNA expression. The results support the hypothesis that CTSC gene variants contribute to increased susceptibility in generalized aggressive periodontitis.

Original languageEnglish
JournalJournal of dental research
Issue number10
Pages (from-to)958-963
Number of pages6
Publication statusPublished - 10.2008


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