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学科主题: 口腔医学
题名:
Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
作者: Ye, Ying1,5; Carlsson, Goran2; Wondimu, Biniyam1; Fahlen, Annika3; Karlsson-Sjoberg, Jenny4; Andersson, Mats4; Engstrand, Lars3; Yucel-Lindberg, Tulay1; Modeer, Thomas1; Putsep, Katrin4
关键词: Kostmann neutropenia ; neutrophil elastase 2 ; periodontal diseases ; subgingival microflora
刊名: JOURNAL OF CLINICAL IMMUNOLOGY
发表日期: 2011-12-01
DOI: 10.1007/s10875-011-9572-0
卷: 31, 期:6, 页:936-945
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Immunology
研究领域[WOS]: Immunology
关键词[WOS]: GINGIVAL CREVICULAR FLUID ; COLONY-STIMULATING FACTOR ; UNFOLDED PROTEIN RESPONSE ; ORIGINAL KOSTMANN FAMILY ; NECROSIS-FACTOR-ALPHA ; CYCLIC NEUTROPENIA ; PEPTIDE LL-37 ; REFRACTORY PERIODONTITIS ; ANTIMICROBIAL PEPTIDES ; ADULT PERIODONTITIS
英文摘要:

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.

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.

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-1 beta 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.

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.

语种: 英语
项目资助者: Swedish Children&prime ; s Cancer Foundation ; Soderbergs Foundation ; Swedish Research Council ; Ake Wiberg Foundation ; Swedish Society for Medicine ; Swedish Patent Revenue Research Fund
WOS记录号: WOS:000297522500002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52805
Appears in Collections:北京大学口腔医学院_期刊论文

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作者单位: 1.Swedish Inst Infect Dis Control, Solna, Sweden
2.Peking Univ, Sch Stomatol, Beijing 100871, Peoples R China
3.Karolinska Inst, Div Pediat Dent, Dept Dent Med, S-14104 Huddinge, Sweden
4.Karolinska Inst, Karolinska Univ Hosp, Dept Womans & Childrens Hlth, Childhood Canc Res Unit, Stockholm, Sweden
5.Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Solna, Sweden

Recommended Citation:
Ye, Ying,Carlsson, Goran,Wondimu, Biniyam,et al. Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia[J]. JOURNAL OF CLINICAL IMMUNOLOGY,2011,31(6):936-945.
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