RT Journal Article
T1 Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study
A1 Fernández Casado, María
A1 Coo Diz, Alicia de
A1 Quintela García, Inés
A1 García Mato, Eliane
A1 Diniz Freitas, Márcio
A1 Limeres Posse, Jacobo
A1 Diz Dios, Pedro
A1 Blanco Carrión, Juan
A1 Carracedo Álvarez, Ángel
A1 Cruz Guerrero, Raquel
K1 Down syndrome
K1 Periodontitis
K1 Genome-wide association study
AB 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 “Axiom Spanish Biobank” 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 × 10−5, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10−5, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10−5, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10−5, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10−5, 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 × 10−2, p = 5.1 × 10−3, p = 1.2 × 10−2, 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
PB MDPI
YR 2021
FD 2021
LK http://hdl.handle.net/10347/26519
UL http://hdl.handle.net/10347/26519
LA eng
NO Int. J. Mol. Sci. 2021, 22(12), 6274; https://doi.org/10.3390/ijms22126274
NO The genotyping service was carried out at CeGen-PRB3-ISCIII; it is supported by grant PT13/0001, ISCIII-SGEFI/FEDER
DS Minerva
RD 24 abr 2026