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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Variation on the <italic>BAT1-NFKBIL1-LTA</italic> Region of Major Histocompatibility Complex Class III Associates with Periodontitis</title><author><name sortKey="Kallio, K A Elisa" sort="Kallio, K A Elisa" uniqKey="Kallio K" first="K. A. Elisa" last="Kallio">K. A. Elisa Kallio</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marchesani, Marja" sort="Marchesani, Marja" uniqKey="Marchesani M" first="Marja" last="Marchesani">Marja Marchesani</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Vlachopoulou, Efthymia" sort="Vlachopoulou, Efthymia" uniqKey="Vlachopoulou E" first="Efthymia" last="Vlachopoulou">Efthymia Vlachopoulou</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="M Ntyl, P Ivi" sort="M Ntyl, P Ivi" uniqKey="M Ntyl P" first="P Ivi" last="M Ntyl">P Ivi M Ntyl</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Paju, Susanna" sort="Paju, Susanna" uniqKey="Paju S" first="Susanna" last="Paju">Susanna Paju</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Buhlin, K Re" sort="Buhlin, K Re" uniqKey="Buhlin K" first="K Re" last="Buhlin">K Re Buhlin</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Periodontology, Institute of Odontology, Karolinska Institutet, Huddinge, Sweden</nlm:aff></affiliation></author><author><name sortKey="Suominen, Anna L" sort="Suominen, Anna L" uniqKey="Suominen A" first="Anna L." last="Suominen">Anna L. Suominen</name><affiliation><nlm:aff id="aff4">National Institute for Health and Welfare, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Institute of Dentistry, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Oral and Maxillofacial Surgery, Kuopio University Hospital, Kuopio Finland</nlm:aff></affiliation></author><author><name sortKey="Contreras, Johanna" sort="Contreras, Johanna" uniqKey="Contreras J" first="Johanna" last="Contreras">Johanna Contreras</name><affiliation><nlm:aff id="aff7">Department of Conservative Dentistry, Faculty of Dentistry, University of Chile, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Knuuttila, Matti" sort="Knuuttila, Matti" uniqKey="Knuuttila M" first="Matti" last="Knuuttila">Matti Knuuttila</name><affiliation><nlm:aff id="aff8">Department of Periodontology and Geriatric Dentistry, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Marcela" sort="Hernandez, Marcela" uniqKey="Hernandez M" first="Marcela" last="Hernandez">Marcela Hernandez</name><affiliation><nlm:aff id="aff9">Laboratory of Periodontal Biology, Faculty of Dentistry, University of Chile, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Huumonen, Sisko" sort="Huumonen, Sisko" uniqKey="Huumonen S" first="Sisko" last="Huumonen">Sisko Huumonen</name><affiliation><nlm:aff id="aff10">Institute of Dentistry, University of Turku, Turku, Finland</nlm:aff></affiliation></author><author><name sortKey="Nieminen, Markku S" sort="Nieminen, Markku S" uniqKey="Nieminen M" first="Markku S." last="Nieminen">Markku S. Nieminen</name><affiliation><nlm:aff id="aff11">HUCH Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Perola, Markus" sort="Perola, Markus" uniqKey="Perola M" first="Markus" last="Perola">Markus Perola</name><affiliation><nlm:aff id="aff4">National Institute for Health and Welfare, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Sinisalo, Juha" sort="Sinisalo, Juha" uniqKey="Sinisalo J" first="Juha" last="Sinisalo">Juha Sinisalo</name><affiliation><nlm:aff id="aff11">HUCH Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Lokki, Marja Liisa" sort="Lokki, Marja Liisa" uniqKey="Lokki M" first="Marja-Liisa" last="Lokki">Marja-Liisa Lokki</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Pussinen, Pirkko J" sort="Pussinen, Pirkko J" uniqKey="Pussinen P" first="Pirkko J." last="Pussinen">Pirkko J. Pussinen</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24566624</idno><idno type="pmc">3993418</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3993418</idno><idno type="RBID">PMC:3993418</idno><idno type="doi">10.1128/IAI.01681-13</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002329</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002329</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Variation on the <italic>BAT1-NFKBIL1-LTA</italic> Region of Major Histocompatibility Complex Class III Associates with Periodontitis</title><author><name sortKey="Kallio, K A Elisa" sort="Kallio, K A Elisa" uniqKey="Kallio K" first="K. A. Elisa" last="Kallio">K. A. Elisa Kallio</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marchesani, Marja" sort="Marchesani, Marja" uniqKey="Marchesani M" first="Marja" last="Marchesani">Marja Marchesani</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Vlachopoulou, Efthymia" sort="Vlachopoulou, Efthymia" uniqKey="Vlachopoulou E" first="Efthymia" last="Vlachopoulou">Efthymia Vlachopoulou</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="M Ntyl, P Ivi" sort="M Ntyl, P Ivi" uniqKey="M Ntyl P" first="P Ivi" last="M Ntyl">P Ivi M Ntyl</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Paju, Susanna" sort="Paju, Susanna" uniqKey="Paju S" first="Susanna" last="Paju">Susanna Paju</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Buhlin, K Re" sort="Buhlin, K Re" uniqKey="Buhlin K" first="K Re" last="Buhlin">K Re Buhlin</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Periodontology, Institute of Odontology, Karolinska Institutet, Huddinge, Sweden</nlm:aff></affiliation></author><author><name sortKey="Suominen, Anna L" sort="Suominen, Anna L" uniqKey="Suominen A" first="Anna L." last="Suominen">Anna L. Suominen</name><affiliation><nlm:aff id="aff4">National Institute for Health and Welfare, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Institute of Dentistry, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Oral and Maxillofacial Surgery, Kuopio University Hospital, Kuopio Finland</nlm:aff></affiliation></author><author><name sortKey="Contreras, Johanna" sort="Contreras, Johanna" uniqKey="Contreras J" first="Johanna" last="Contreras">Johanna Contreras</name><affiliation><nlm:aff id="aff7">Department of Conservative Dentistry, Faculty of Dentistry, University of Chile, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Knuuttila, Matti" sort="Knuuttila, Matti" uniqKey="Knuuttila M" first="Matti" last="Knuuttila">Matti Knuuttila</name><affiliation><nlm:aff id="aff8">Department of Periodontology and Geriatric Dentistry, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Marcela" sort="Hernandez, Marcela" uniqKey="Hernandez M" first="Marcela" last="Hernandez">Marcela Hernandez</name><affiliation><nlm:aff id="aff9">Laboratory of Periodontal Biology, Faculty of Dentistry, University of Chile, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Huumonen, Sisko" sort="Huumonen, Sisko" uniqKey="Huumonen S" first="Sisko" last="Huumonen">Sisko Huumonen</name><affiliation><nlm:aff id="aff10">Institute of Dentistry, University of Turku, Turku, Finland</nlm:aff></affiliation></author><author><name sortKey="Nieminen, Markku S" sort="Nieminen, Markku S" uniqKey="Nieminen M" first="Markku S." last="Nieminen">Markku S. Nieminen</name><affiliation><nlm:aff id="aff11">HUCH Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Perola, Markus" sort="Perola, Markus" uniqKey="Perola M" first="Markus" last="Perola">Markus Perola</name><affiliation><nlm:aff id="aff4">National Institute for Health and Welfare, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Sinisalo, Juha" sort="Sinisalo, Juha" uniqKey="Sinisalo J" first="Juha" last="Sinisalo">Juha Sinisalo</name><affiliation><nlm:aff id="aff11">HUCH Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Lokki, Marja Liisa" sort="Lokki, Marja Liisa" uniqKey="Lokki M" first="Marja-Liisa" last="Lokki">Marja-Liisa Lokki</name><affiliation><nlm:aff id="aff2">Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Pussinen, Pirkko J" sort="Pussinen, Pirkko J" uniqKey="Pussinen P" first="Pirkko J." last="Pussinen">Pirkko J. Pussinen</name><affiliation><nlm:aff id="aff1">Institute of Dentistry, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author></analytic><series><title level="j">Infection and Immunity</title><idno type="ISSN">0019-9567</idno><idno type="eISSN">1098-5522</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Periodontitis is a chronic inflammatory disease with a multifactorial etiology. We investigated whether human major histocompatibility complex (MHC) polymorphisms (6p21.3) are associated with periodontal parameters. Parogene 1 population samples (<italic>n</italic> = 169) were analyzed with 13,245 single nucleotide polymorphisms (SNPs) of the MHC region. Eighteen selected SNPs (<italic>P</italic> ≤ 0.001) were replicated in Parogene 2 population samples (<italic>n</italic> = 339) and the Health 2000 Survey (<italic>n</italic> = 1,420). All subjects had a detailed clinical and radiographic oral health examination. Serum lymphotoxin-α (LTA) concentrations were measured in the Parogene populations, and the protein was detected in inflamed periodontal tissue. In the Parogene 1 population, 10 SNPs were associated with periodontal parameters. The strongest associations emerged from the parameters bleeding on probing (BOP) and a probing pocket depth (PPD) of ≥6 mm with the genes <italic>BAT1</italic>, <italic>NFKBIL1</italic>, and <italic>LTA</italic>. Six SNPs, rs11796, rs3130059, rs2239527, rs2071591, rs909253, and rs1041981 (<italic>r</italic><sup>2</sup>, ≥0.92), constituted a risk haplotype. In the Parogene 1 population, the haplotype had the strongest association with the parameter BOP, a PPD of ≥6 mm, and severe periodontitis with odds ratios (95% confidence intervals) of 2.63 (2.21 to 3.20), 2.90 (2.37 to 3.52), and 3.10 (1.63 to 5.98), respectively. These results were replicated in the other two populations. High serum LTA concentrations in the Parogene population were associated with the periodontitis risk alleles of the <italic>LTA</italic> SNPs (rs909253 and rs1041981) of the haplotype. In addition, the protein was expressed in inflamed gingival connective tissue. We identified a novel <italic>BAT1-NFKBIL1-LTA</italic> haplotype as a significant contributor to the risk of periodontitis. The genetic polymorphisms in the MHC class III region may be functionally important in periodontitis susceptibility.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Infect Immun</journal-id><journal-id journal-id-type="iso-abbrev">Infect. Immun</journal-id><journal-id journal-id-type="hwp">iai</journal-id><journal-id journal-id-type="pmc">iai</journal-id><journal-id journal-id-type="publisher-id">IAI</journal-id><journal-title-group><journal-title>Infection and Immunity</journal-title></journal-title-group><issn pub-type="ppub">0019-9567</issn><issn pub-type="epub">1098-5522</issn><publisher><publisher-name>American Society for Microbiology</publisher-name><publisher-loc>1752 N St., N.W., Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24566624</article-id><article-id pub-id-type="pmc">3993418</article-id><article-id pub-id-type="publisher-id">01681-13</article-id><article-id pub-id-type="doi">10.1128/IAI.01681-13</article-id><article-categories><subj-group subj-group-type="heading"><subject>Host Response and Inflammation</subject></subj-group></article-categories><title-group><article-title>Genetic Variation on the <italic>BAT1-NFKBIL1-LTA</italic> Region of Major Histocompatibility Complex Class III Associates with Periodontitis</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Kallio</surname><given-names>K. A. Elisa</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Marchesani</surname><given-names>Marja</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vlachopoulou</surname><given-names>Efthymia</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mäntylä</surname><given-names>Päivi</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Paju</surname><given-names>Susanna</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Buhlin</surname><given-names>Kåre</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref><xref ref-type="aff" rid="aff3"><sup>c</sup></xref></contrib><contrib contrib-type="author"><name><surname>Suominen</surname><given-names>Anna L.</given-names></name><xref ref-type="aff" rid="aff4"><sup>d</sup></xref><xref ref-type="aff" rid="aff5"><sup>e</sup></xref><xref ref-type="aff" rid="aff6"><sup>f</sup></xref></contrib><contrib contrib-type="author"><name><surname>Contreras</surname><given-names>Johanna</given-names></name><xref ref-type="aff" rid="aff7"><sup>g</sup></xref></contrib><contrib contrib-type="author"><name><surname>Knuuttila</surname><given-names>Matti</given-names></name><xref ref-type="aff" rid="aff8"><sup>h</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hernandez</surname><given-names>Marcela</given-names></name><xref ref-type="aff" rid="aff9"><sup>i</sup></xref></contrib><contrib contrib-type="author"><name><surname>Huumonen</surname><given-names>Sisko</given-names></name><xref ref-type="aff" rid="aff10"><sup>j</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nieminen</surname><given-names>Markku S.</given-names></name><xref ref-type="aff" rid="aff11"><sup>k</sup></xref></contrib><contrib contrib-type="author"><name><surname>Perola</surname><given-names>Markus</given-names></name><xref ref-type="aff" rid="aff4"><sup>d</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sinisalo</surname><given-names>Juha</given-names></name><xref ref-type="aff" rid="aff11"><sup>k</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lokki</surname><given-names>Marja-Liisa</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pussinen</surname><given-names>Pirkko J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><aff id="aff1"><label>a</label>Institute of Dentistry, University of Helsinki, Helsinki, Finland</aff><aff id="aff2"><label>b</label>Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, Finland</aff><aff id="aff3"><label>c</label>Department of Periodontology, Institute of Odontology, Karolinska Institutet, Huddinge, Sweden</aff><aff id="aff4"><label>d</label>National Institute for Health and Welfare, Helsinki, Finland</aff><aff id="aff5"><label>e</label>Institute of Dentistry, University of Eastern Finland, Kuopio, Finland</aff><aff id="aff6"><label>f</label>Department of Oral and Maxillofacial Surgery, Kuopio University Hospital, Kuopio Finland</aff><aff id="aff7"><label>g</label>Department of Conservative Dentistry, Faculty of Dentistry, University of Chile, Santiago, Chile</aff><aff id="aff8"><label>h</label>Department of Periodontology and Geriatric Dentistry, University of Oulu, Oulu, Finland</aff><aff id="aff9"><label>i</label>Laboratory of Periodontal Biology, Faculty of Dentistry, University of Chile, Santiago, Chile</aff><aff id="aff10"><label>j</label>Institute of Dentistry, University of Turku, Turku, Finland</aff><aff id="aff11"><label>k</label>HUCH Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland</aff></contrib-group><contrib-group><contrib contrib-type="editor"><name><surname>Blanke</surname><given-names>S. R.</given-names></name><role>Editor</role></contrib></contrib-group><author-notes><corresp id="cor1">Address correspondence to K. A. Elisa Kallio, <email>elisa.kallio@helsinki.fi</email>.</corresp><fn fn-type="equal"><p>K.A.E.K. and M.M. contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>5</month><year>2014</year></pub-date><volume>82</volume><issue>5</issue><fpage>1939</fpage><lpage>1948</lpage><history><date date-type="received"><day>8</day><month>2</month><year>2014</year></date><date date-type="rev-request"><day>14</day><month>2</month><year>2014</year></date><date date-type="accepted"><day>18</day><month>2</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2014, American Society for Microbiology. All Rights Reserved.</copyright-statement><copyright-year>2014</copyright-year><copyright-holder>American Society for Microbiology</copyright-holder></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="zii00514001939.pdf"></self-uri><abstract><p>Periodontitis is a chronic inflammatory disease with a multifactorial etiology. We investigated whether human major histocompatibility complex (MHC) polymorphisms (6p21.3) are associated with periodontal parameters. Parogene 1 population samples (<italic>n</italic> = 169) were analyzed with 13,245 single nucleotide polymorphisms (SNPs) of the MHC region. Eighteen selected SNPs (<italic>P</italic> ≤ 0.001) were replicated in Parogene 2 population samples (<italic>n</italic> = 339) and the Health 2000 Survey (<italic>n</italic> = 1,420). All subjects had a detailed clinical and radiographic oral health examination. Serum lymphotoxin-α (LTA) concentrations were measured in the Parogene populations, and the protein was detected in inflamed periodontal tissue. In the Parogene 1 population, 10 SNPs were associated with periodontal parameters. The strongest associations emerged from the parameters bleeding on probing (BOP) and a probing pocket depth (PPD) of ≥6 mm with the genes <italic>BAT1</italic>, <italic>NFKBIL1</italic>, and <italic>LTA</italic>. Six SNPs, rs11796, rs3130059, rs2239527, rs2071591, rs909253, and rs1041981 (<italic>r</italic><sup>2</sup>, ≥0.92), constituted a risk haplotype. In the Parogene 1 population, the haplotype had the strongest association with the parameter BOP, a PPD of ≥6 mm, and severe periodontitis with odds ratios (95% confidence intervals) of 2.63 (2.21 to 3.20), 2.90 (2.37 to 3.52), and 3.10 (1.63 to 5.98), respectively. These results were replicated in the other two populations. High serum LTA concentrations in the Parogene population were associated with the periodontitis risk alleles of the <italic>LTA</italic> SNPs (rs909253 and rs1041981) of the haplotype. In addition, the protein was expressed in inflamed gingival connective tissue. We identified a novel <italic>BAT1-NFKBIL1-LTA</italic> haplotype as a significant contributor to the risk of periodontitis. The genetic polymorphisms in the MHC class III region may be functionally important in periodontitis susceptibility.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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