Cathepsin C gene variants in aggressive periodontitis

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

Abstract

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 single-nucleotide 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 Delta OD/min*10(5) cells, 95% confidence interval 17.4-174.9, p = 0.018). No influence of promoter variants was found on mRNA expression. The results support the hypothesis that CTSC gene variants contribute to increased susceptibility in generalized aggressive periodontitis.

Details

Original languageEnglish
Pages (from-to)958-63
Number of pages6
JournalJournal of dental research
Volume87
Issue number10
Publication statusPublished - Oct 2008
Peer-reviewedYes

External IDs

ORCID /0000-0002-0423-7107/work/147142734
Scopus 58149263896

Keywords

Keywords

  • Acute Disease, Adult, Case-Control Studies, Cathepsin C/genetics, DNA Mutational Analysis, Gene Frequency, Genes, Recessive, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Logistic Models, Mutation, Missense, Periodontitis/genetics, Polymorphism, Single Nucleotide, Promoter Regions, Genetic