Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
| Autor: | Biniyam Wondimu, Thomas Modéer, Katrin Pütsep, Tülay Yucel-Lindberg, Jenny Karlsson-Sjöberg, Annika Fahlén, Göran Carlsson, Mats Andersson, Lars Engstrand, Ying Ye |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
DNA Bacterial Male medicine.medical_specialty Neutropenia subgingival microflora Adolescent DNA Mutational Analysis Immunology Gingiva macromolecular substances Article Medical microbiology Cathelicidins Genotype medicine Congenital Bone Marrow Failure Syndromes Humans Immunology and Allergy Genetic Predisposition to Disease Child Periodontitis Congenital Neutropenia Genetic Association Studies Sweden Polymorphism Genetic biology Middle Aged Kostmann neutropenia medicine.disease Phenotype nervous system ELANE Gene Neutrophil elastase Mutation biology.protein Cytokines Female neutrophil elastase 2 sense organs Leukocyte Elastase periodontal diseases Antimicrobial Cationic Peptides |
| Zdroj: | Journal of Clinical Immunology |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-011-9572-0 |
| Popis: | Background Patients with severe congenital neutropenia (SCN) often develop periodontitis despite standard medical and dental care. In light of previous findings that mutations in the neutrophil elastase gene, ELANE, are associated with more severe neutropenic phenotypes, we hypothesized an association between the genotype of SCN and development of periodontitis. Methods Fourteen Swedish patients with SCN or cyclic neutropenia harboring different genetic backgrounds were recruited for periodontal examination. Peripheral blood, gingival crevicular fluid (GCF), and subgingival bacterial samples were collected. The levels of cytokines and antibacterial peptides were determined in GCF and plasma by multiplex immunoassay and immunoblotting, respectively. Subgingival bacterial samples were analyzed using 16S rDNA pyrosequencing. Results ELANE mutations correlated with more severe periodontal status than the HAX1 or unknown mutations in patients with SCN. The subjects with mutant ELANE had higher levels of IL-1β in GCF. Using principal coordinate analysis of the subgingival microbiota, patients with ELANE mutations and reference subjects with periodontitis tended to cluster differently from patients with HAX1 or unknown mutations and non-periodontitis reference subjects. Conclusion This study demonstrates an association between ELANE mutations in SCN and the development of periodontitis with skewed subgingival microbiota, indicating a potential role of ELANE mutations in the pathogenesis of periodontitis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink