Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
Identifieur interne : 004112 ( Main/Exploration ); précédent : 004111; suivant : 004113Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
Auteurs : Ying Ye [Suède, République populaire de Chine] ; Göran Carlsson [Suède] ; Biniyam Wondimu [Suède] ; Annika Fahlén [Suède] ; Jenny Karlsson-Sjöberg [Suède] ; Mats Andersson [Suède] ; Lars Engstrand [Suède] ; Tülay Yucel-Lindberg [Suède] ; Thomas Modéer [Suède] ; Katrin Pütsep [Suède]Source :
- Journal of Clinical Immunology [ 0271-9142 ] ; 2011.
Abstract
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,
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.
This study demonstrates an association between
Url:
DOI: 10.1007/s10875-011-9572-0
PubMed: 21796505
PubMed Central: 3223588
Affiliations:
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Huddinge</wicri:regionArea><wicri:noRegion>141 04 Huddinge</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="Aff5">School of Stomatology, Peking University, Beijing, People’s Republic of China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>School of Stomatology, Peking University, Beijing</wicri:regionArea><placeName><settlement type="city">Pékin</settlement><settlement type="city">Pékin</settlement></placeName><orgName type="university">Université de Pékin</orgName></affiliation></author><author><name sortKey="Carlsson, Goran" sort="Carlsson, Goran" uniqKey="Carlsson G" first="Göran" last="Carlsson">Göran Carlsson</name><affiliation wicri:level="3"><nlm:aff id="Aff2">Childhood Cancer Research Unit, Department of Woman’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Childhood Cancer Research Unit, Department of Woman’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Wondimu, Biniyam" sort="Wondimu, Biniyam" uniqKey="Wondimu B" first="Biniyam" last="Wondimu">Biniyam Wondimu</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge</wicri:regionArea><wicri:noRegion>141 04 Huddinge</wicri:noRegion></affiliation></author><author><name sortKey="Fahlen, Annika" sort="Fahlen, Annika" uniqKey="Fahlen A" first="Annika" last="Fahlén">Annika Fahlén</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Swedish Institute for Infectious Disease Control, Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Swedish Institute for Infectious Disease Control, Solna</wicri:regionArea><wicri:noRegion>Solna</wicri:noRegion></affiliation></author><author><name sortKey="Karlsson Sjoberg, Jenny" sort="Karlsson Sjoberg, Jenny" uniqKey="Karlsson Sjoberg J" first="Jenny" last="Karlsson-Sjöberg">Jenny Karlsson-Sjöberg</name><affiliation wicri:level="1"><nlm:aff id="Aff4">Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna</wicri:regionArea><wicri:noRegion>Solna</wicri:noRegion></affiliation></author><author><name sortKey="Andersson, Mats" sort="Andersson, Mats" uniqKey="Andersson M" first="Mats" last="Andersson">Mats Andersson</name><affiliation wicri:level="1"><nlm:aff id="Aff4">Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna</wicri:regionArea><wicri:noRegion>Solna</wicri:noRegion></affiliation></author><author><name sortKey="Engstrand, Lars" sort="Engstrand, Lars" uniqKey="Engstrand L" first="Lars" last="Engstrand">Lars Engstrand</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Swedish Institute for Infectious Disease Control, Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Swedish Institute for Infectious Disease Control, Solna</wicri:regionArea><wicri:noRegion>Solna</wicri:noRegion></affiliation></author><author><name sortKey="Yucel Lindberg, Tulay" sort="Yucel Lindberg, Tulay" uniqKey="Yucel Lindberg T" first="Tülay" last="Yucel-Lindberg">Tülay Yucel-Lindberg</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge</wicri:regionArea><wicri:noRegion>141 04 Huddinge</wicri:noRegion></affiliation></author><author><name sortKey="Modeer, Thomas" sort="Modeer, Thomas" uniqKey="Modeer T" first="Thomas" last="Modéer">Thomas Modéer</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Box 4064, 141 04 Huddinge</wicri:regionArea><wicri:noRegion>141 04 Huddinge</wicri:noRegion></affiliation></author><author><name sortKey="Putsep, Katrin" sort="Putsep, Katrin" uniqKey="Putsep K" first="Katrin" last="Pütsep">Katrin Pütsep</name><affiliation wicri:level="1"><nlm:aff id="Aff4">Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Solna</wicri:regionArea><wicri:noRegion>Solna</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of Clinical Immunology</title><idno type="ISSN">0271-9142</idno><idno type="eISSN">1573-2592</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>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, <italic>ELANE</italic>, are associated with more severe neutropenic phenotypes, we hypothesized an association between the genotype of SCN and development of periodontitis.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p><italic>ELANE</italic> mutations correlated with more severe periodontal status than the <italic>HAX1</italic> or unknown mutations in patients with SCN. The subjects with mutant <italic>ELANE</italic> had higher levels of IL-1β in GCF. Using principal coordinate analysis of the subgingival microbiota, patients with <italic>ELANE</italic> mutations and reference subjects with periodontitis tended to cluster differently from patients with <italic>HAX1</italic> or unknown mutations and non-periodontitis reference subjects.</p></sec><sec><title>Conclusion</title><p>This study demonstrates an association between <italic>ELANE</italic> mutations in SCN and the development of periodontitis with skewed subgingival microbiota, indicating a potential role of <italic>ELANE</italic> mutations in the pathogenesis of periodontitis.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kostmann, R" uniqKey="Kostmann R">R Kostmann</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kostman, R" uniqKey="Kostman R">R Kostman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zeidler, C" uniqKey="Zeidler C">C 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Beger</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Meyer Hoffert, U" uniqKey="Meyer Hoffert U">U Meyer-Hoffert</name></author><author><name sortKey="Wiedow, O" uniqKey="Wiedow O">O Wiedow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Carlsson, G" uniqKey="Carlsson G">G Carlsson</name></author><author><name sortKey="Elinder, G" uniqKey="Elinder G">G Elinder</name></author><author><name sortKey="Malmgren, H" uniqKey="Malmgren H">H Malmgren</name></author><author><name sortKey="Trebinska, A" uniqKey="Trebinska A">A Trebinska</name></author><author><name sortKey="Grzybowska, E" uniqKey="Grzybowska E">E Grzybowska</name></author><author><name sortKey="Dahl, N" uniqKey="Dahl N">N Dahl</name></author><author><name sortKey="Nordenskjold, M" uniqKey="Nordenskjold M">M Nordenskjold</name></author><author><name sortKey="Fadeel, B" uniqKey="Fadeel B">B Fadeel</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>République populaire de Chine</li><li>Suède</li></country><region><li>Svealand</li></region><settlement><li>Pékin</li><li>Stockholm</li></settlement><orgName><li>Université de Pékin</li></orgName></list><tree><country name="Suède"><noRegion><name sortKey="Ye, Ying" sort="Ye, Ying" uniqKey="Ye Y" first="Ying" last="Ye">Ying Ye</name></noRegion><name sortKey="Andersson, Mats" sort="Andersson, Mats" uniqKey="Andersson M" first="Mats" last="Andersson">Mats Andersson</name><name sortKey="Carlsson, Goran" sort="Carlsson, Goran" uniqKey="Carlsson G" first="Göran" last="Carlsson">Göran Carlsson</name><name sortKey="Engstrand, Lars" sort="Engstrand, Lars" uniqKey="Engstrand L" first="Lars" last="Engstrand">Lars Engstrand</name><name sortKey="Fahlen, Annika" sort="Fahlen, Annika" uniqKey="Fahlen A" first="Annika" last="Fahlén">Annika Fahlén</name><name sortKey="Karlsson Sjoberg, Jenny" sort="Karlsson Sjoberg, Jenny" uniqKey="Karlsson Sjoberg J" first="Jenny" last="Karlsson-Sjöberg">Jenny Karlsson-Sjöberg</name><name sortKey="Modeer, Thomas" sort="Modeer, Thomas" uniqKey="Modeer T" first="Thomas" last="Modéer">Thomas Modéer</name><name sortKey="Putsep, Katrin" sort="Putsep, Katrin" uniqKey="Putsep K" first="Katrin" last="Pütsep">Katrin Pütsep</name><name sortKey="Wondimu, Biniyam" sort="Wondimu, Biniyam" uniqKey="Wondimu B" first="Biniyam" last="Wondimu">Biniyam Wondimu</name><name sortKey="Yucel Lindberg, Tulay" sort="Yucel Lindberg, Tulay" uniqKey="Yucel Lindberg T" first="Tülay" last="Yucel-Lindberg">Tülay Yucel-Lindberg</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Ye, Ying" sort="Ye, Ying" uniqKey="Ye Y" first="Ying" last="Ye">Ying Ye</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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