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dc.contributor.authorIber-Díaz, Paula
dc.contributor.authorSenen-Carramolino, Raquel
dc.contributor.authorIglesias-Linares, Alejandro
dc.contributor.authorFernandez-Navarro, Pablo L 
dc.contributor.authorFlores-Mir, Carlos
dc.contributor.authorYañez-Vico, Rosa M
dc.identifier.citationJ Pers Med . 2020 Oct 14;10(4):169.es_ES
dc.description.abstractPersonalized dental medicine requires from precise and customized genomic diagnostic. To conduct an association analysis over multiple putative loci and genes located at chromosomes 2, 4, 8, 12, 18, X, and Y, potentially implicated in an extreme type of external apical root resorption secondary to orthodontic forces (aEARR). A genome-wide association study of aEARR was conducted with 480 patients [ratio~1:3 case/control]. Genomic DNA was extracted and analyzed using the high-throughput Axiom platform with the GeneTitan® MC Instrument. Up to 14,377 single nucleotide polymorphisms (SNPs) were selected at candidate regions and clinical/diagnostic data were recorded. A descriptive analysis of the data along with a backward conditional binary logistic regression was used to calculate odds ratios, with 95% confidence intervals [p < 0.05]. To select the best SNP candidates, a logistic regression model was fitted assuming a log-additive genetic model using R software [p < 0.0001]. In this sample the top lead genetic variants associated with aEARR were two novel putative genes located in the X chromosome, specifically, STAG 2 gene, rs151184635 and RP1-30E17.2 gene, rs55839915. These variants were found to be associated with an increased risk of aEARR, particularly restricted to men [OR: 6.09; 95%CI: 2.6-14.23 and OR: 6.86; 95%CI: 2.65-17.81, respectively]. Marginal associations were found at previously studied variants such as SSP1: rs11730582 [OR: 0.54; 95%CI: 0.34-0.86; p = 0.008], P2RX7: rs1718119 [OR: 0.6; 95%CI: 0.36-1.01; p = 0.047], and TNFRSF11A: rs8086340 [OR: 0.6; 95%CI: 0.38-0.95; p = 0.024]), found solely in females. Multiple putative genetic variants located at chromosomes X and Y are potentially implicated in an extreme phenotype of aEARR. A gender-linked association was noted.es_ES
dc.description.sponsorshipThis research was funded by the European Orthodontic Society Research Award, 2017.es_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI) es_ES
dc.subjectDental traumaes_ES
dc.subjectFixed applianceses_ES
dc.titleGWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderEuropean Orthodontic Society Research
dc.identifier.journalJournal of personalized medicinees_ES
dc.repisalud.centroISCIII::Centro Nacional de Epidemologíaes_ES
dc.rights.accessRightsopen accesses_ES

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