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GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.

ABSTRACT: Personalized 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.

SUBMITTER: Iber-Diaz P

PROVIDER: S-EPMC7712155 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.

Iber-Díaz Paula P Senen-Carramolino Raquel R Iglesias-Linares Alejandro A Fernández-Navarro Pablo P Flores-Mir Carlos C Yañez-Vico Rosa M RM

Journal of personalized medicine 20201014 4

Personalized 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 pla ...[more]

PMID: 33066413

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Project description:ObjectivesTo develop a clinical practice guideline on orthodontically induced external apical root resorption (EARR), with evidence-based and, when needed, consensus-based recommendations concerning diagnosis, risk factors, management during treatment, and after-treatment care.Materials and methodsThe Appraisal of Guidelines for Research and Evaluation II instrument and the Dutch Method for Evidence-Based Guideline Development were used to develop the guideline. Based on a survey of all Dutch orthodontists, we formulated four clinical questions regarding EARR. To address these questions, we conducted systematic literature searches in MEDLINE and Embase, and we performed a systematic literature review. The quality of evidence was assessed with the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. After discussing the evidence, a Task Force formulated considerations and recommendations. The drafted guideline was sent for comments to all relevant stakeholders.ResultsEight studies were included. The quality of evidence (GRADE) was rated as low or very low. Only the patient-related risk factors, 'gender' and 'age', showed a moderate quality of evidence. The Task Force formulated 13 final recommendations concerning the detection of EARR, risk factors, EARR management during treatment, and after-treatment care when EARR has occurred. Stakeholder consultation resulted in 51 comments on the drafted guideline. After processing the comments, the final guideline was authorized by the Dutch Association of Orthodontists. The entire process took 3 years.LimitationsThe quality of the available evidence was mainly low, and patient-reported outcome measures were lacking.Conclusions/implicationsThis clinical practice guideline allows clinicians to respond to EARR based on current knowledge, although the recommendations are weak due to low-quality evidence. It may reduce variation between practices and aid in providing patients appropriate information.

Dataset Information

GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.

Publications

GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.

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