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dc.contributor.authorUitterlinden, Andre G.
dc.contributor.authorMunz, Matthias
dc.contributor.authorWillenborg, Christina
dc.contributor.authorRichter, Gesa M.
dc.contributor.authorJockel-Schneider, Yvonne
dc.contributor.authorGraetz, Christian
dc.contributor.authorStaufenbiel, Ingmar
dc.contributor.authorWellmann, Juergen
dc.contributor.authorBerger, Klaus
dc.contributor.authorKrone, Bastian
dc.contributor.authorvan der Velde, Nathalie
dc.contributor.authorde Groot, Lisette C. P. G. M.
dc.contributor.authorSawalha, Amr H.
dc.contributor.authorDireskeneli, Haner
dc.contributor.authorKeceli, Gencay
dc.contributor.authorLaudes, Matthias
dc.contributor.authorNoack, Barbara
dc.contributor.authorTeumer, Alexander
dc.contributor.authorHoltfreter, Birte
dc.contributor.authorKocher, Thomas
dc.contributor.authorEickholz, Peter
dc.contributor.authorMeyle, Joerg
dc.contributor.authorDoerfer, Christof
dc.contributor.authorBruckmann, Corinna
dc.contributor.authorLieb, Wolfgang
dc.contributor.authorFranke, Andre
dc.contributor.authorSchreiber, Stefan
dc.contributor.authorNohutcu, Rahime M.
dc.contributor.authorErdmann, Jeanette
dc.contributor.authorLoos, Bruno G.
dc.contributor.authorJepsen, Soeren
dc.contributor.authorDommisch, Henrik
dc.contributor.authorSchaefer, Arne S.
dc.contributor.authorGÜZELDEMİR AKÇAKANAT, ESRA
dc.contributor.authorSaruhan-Direskeneli, Guher
dc.contributor.authorHoffmann, Per
dc.date.accessioned2021-03-03T09:52:58Z
dc.date.available2021-03-03T09:52:58Z
dc.date.issued2017
dc.identifier.citationMunz M., Willenborg C., Richter G. M. , Jockel-Schneider Y., Graetz C., Staufenbiel I., Wellmann J., Berger K., Krone B., Hoffmann P., et al., "A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis", HUMAN MOLECULAR GENETICS, cilt.26, sa.13, ss.2577-2588, 2017
dc.identifier.issn0964-6906
dc.identifier.otherav_1f573a6e-47b8-4c6b-a073-11210398cb81
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/26202
dc.identifier.urihttps://doi.org/10.1093/hmg/ddx151
dc.description.abstractPeriodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. The disease is characterized by destruction of the alveolar bone due to an aberrant host inflammatory response to a dysbiotic oral microbiome. Previous genome-wide association studies (GWAS) have reported several suggestive susceptibility loci. Here, we conducted a GWAS using a German and Dutch case-control sample of aggressive periodontitis (AgP, 896 cases, 7,104 controls), a rare but highly severe and early-onset form of periodontitis, validated the associations in a German sample of severe forms of the more moderate phenotype chronic periodontitis (CP) (993 cases, 1,419 controls). Positive findings were replicated in a Turkish sample of AgP (223 cases, 564 controls). A locus at SIGLEC5 (sialic acid binding Ig-like lectin 5) and a chromosomal region downstream of the DEFA1A3 locus (defensin alpha 1-3) showed association with both disease phenotypes and were associated with periodontitis at a genome-wide significance level in the pooled samples, with P = 1.09E-08 (rs4284742,-G; OR = 1.34, 95% CI = 1.21-1.48) and P = 5.48E-10 (rs2738058,-T; OR = 1.28, 95% CI = 1.18-1.38), respectively. SIGLEC5 is expressed in various myeloid immune cells and classified as an inhibitory receptor with the potential tomediate tyrosine phosphatases SHP-1/-2 dependent signaling. Alpha defensins are antimicrobial peptides with expression in neutrophils andmucosal surfaces and a role in phagocyte-mediated host defense. This study identifies the first shared genetic risk loci of AgP and CP with genome-wide significance and highlights the role of innate and adaptive immunity in the etiology of periodontitis.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.titleA genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis
dc.typeMakale
dc.relation.journalHUMAN MOLECULAR GENETICS
dc.contributor.departmentUniversity of Bonn , ,
dc.identifier.volume26
dc.identifier.issue13
dc.identifier.startpage2577
dc.identifier.endpage2588
dc.contributor.firstauthorID244438


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