{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T20:32:49Z","timestamp":1788813169831,"version":"build-2803163510"},"reference-count":57,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T00:00:00Z","timestamp":1623283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CeGen-PRB3-ISCIII","award":["PT13\/0001, ISCIII-SGEFI \/ FEDER"],"award-info":[{"award-number":["PT13\/0001, ISCIII-SGEFI \/ FEDER"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the \u201cAxiom Spanish Biobank\u201d array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 \u00d7 10\u22125, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 \u00d7 10\u22125, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 \u00d7 10\u22125, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 \u00d7 10\u22125, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 \u00d7 10\u22125, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 \u00d7 10\u22122, p = 5.1 \u00d7 10\u22123, p = 1.2 \u00d7 10\u22122, respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.<\/jats:p>","DOI":"10.3390\/ijms22126274","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T13:31:39Z","timestamp":1623331899000},"page":"6274","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study"],"prefix":"10.3390","volume":"22","author":[{"given":"Mar\u00eda","family":"Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"Grupo de Investigaci\u00f3n en Odontolog\u00eda M\u00e9dico-Quir\u00fargica (OMEQUI), Instituto de Investigaci\u00f3n Sanitaria de Santiago de Compostela (IDIS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7471-0254","authenticated-orcid":false,"given":"Alicia","family":"de Coo","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica, Centro Singular de Investigaci\u00f3n en Medicina Molecular y Enfermedades Cr\u00f3nicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0239-7975","authenticated-orcid":false,"given":"In\u00e9s","family":"Quintela","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica, Centro Singular de Investigaci\u00f3n en Medicina Molecular y Enfermedades Cr\u00f3nicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain"},{"name":"Centro Nacional de Genotipado, Plataforma de Recursos Biomoleculares, Instituto de Salud Carlos III (CeGen-PRB3-ISCIII), 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