Association of genetic polymorphism and external apical root resorption.
Ontology highlight
ABSTRACT: Objective
To evaluate the relationship between genetic polymorphism and external apical root resorption.Methodology
The protocol was prepared and registered on PROSPERO. Two reviewers independently conducted a comprehensive literature search. The MEDLINE, Embase, Cochrane, and PubMed databases were searched. In addition, the bibliographies of all relevant articles and textbooks were manually searched.Results
Thirteen studies met the inclusion criteria. Four studies were classified as low-quality studies (score <10), and nine studies were classified as high-quality studies.Discussion
The results of the present review suggest that, although some authors have reported that genetic polymorphism may play a role in external apical root resorption, others have not supported this association. Future studies should be more consistent in their research methodologies to determine with clarity whether an association exists.Conclusion
Future investigations should include larger sample sizes with matching cases/controls, adjust for confounders, provide power calculation and odds ratios, and report genetic analyses with the Hardy-Weinberg equilibrium. The current investigation suggests guidelines and recommendations for future investigators studying genetic polymorphism in patients undergoing orthodontic treatment.
SUBMITTER: Aminoshariae A
PROVIDER: S-EPMC8597325 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:External apical root resorption is one of the most deleterious complications after orthodontic treatment. Studies to explain the causal relationship between orthodontic tooth movement and external apical root resorption have been inconclusive till date. Individual variations in external apical root resorption sometimes overshadow the treatment related factors which indicate genetic predisposition and/or multifactorial etiology. Mechanism of root resorption is not completely understood. Inflammatory root resorption induced by orthodontic treatment is a part of process of elimination of hyaline zone. An imbalance between bone resorption and deposition may contribute to root resorption by the cementoclasts/osteoclasts. This narrative review article explains the molecular pathway involved in external apical root resorption and also role of various genes involved at different level. It also reviews the literature published during the past 20 years concerning the association studies linking EARR to genetic polymorphisms. This literature review provides an insight into genetic predisposition of external apical root resorption that can be used in orthodontic practice to enable 'high-risk' subjects to be identified on the basis of their genetic information before orthodontic treatment is initiated.
| S-EPMC7586589 | biostudies-literature
Project description:Objective:To date, only a few studies have investigated the relationships between genetic polymorphisms and external apical root resorption (EARR). Hence, the aim of this systematic review was to explore the relationship between different gene polymorphisms and their association with EARR. Methods:A complete literature search was conducted by two independent reviewers. The PubMed, Science Direct, and Scopus databases were searched. In addition, the bibliographies of all textbooks and relevant articles were searched manually. A meta-analysis was performed using data entered into the electronic databases until February 28, 2017. Results:On the basis of the search, we identified 17 and 7 publications for the systematic review and meta-analysis, respectively. Odds ratio (OR) was used to evaluate the association of the interleukin 1B (+3954) polymorphism and the risk of EARR. The overall OR from the studies was used to estimate the risk of EARR. However, no association was found and no publication bias was apparent for the risk of EARR in patients receiving orthodontic treatment. Conclusions:More research on the relationship between gene polymorphism and EARR is necessary to determine better specificity of possible interactions.
| S-EPMC6234115 | biostudies-other
Project description:When orthodontic patients desire shorter treatment times with aesthetic results and long-term stability, it is important for the orthodontist to understand the potential limitations and problems that may arise during standard and/or technology-assisted accelerated treatment. Bone density plays an important role in facilitating orthodontic tooth movement (OTM), such that reductions in bone density can significantly increase movement velocity. Lifestyle, genetic background, environmental factors, and disease status all can influence a patients' overall health and bone density. In some individuals, these factors may create specific conditions that influence systemic-wide bone metabolism. Both genetic variation and the onset of a bone-related disease can influence systemic bone density and local bone density, such as observed in the mandible and maxilla. These types of localized density changes can affect the rate of OTM and may also influence the risk of unwanted outcomes, i.e., the occurrence of dental external apical root resorption (EARR).
| S-EPMC5106316 | biostudies-literature
Project description:To review studies investigating if genetic factors play a role in external apical root resorption (EARR) during orthodontic treatment. Heritability estimation in human sib-pairs, comparison of multiple inbred mouse strains, human sib-pair linkage and parents-child trio association studies, and two gene (Il-1b, and P2rx7) knock out mouse models. Heritability for EARR of the maxillary central incisors concurrent with orthodontic treatment is 0.8. DBA/2J, BALB/cJ, and 129P3/J inbred mouse strains are highly susceptible (p < .05) to histological root resorption (RR) associated with orthodontic force (RRAOF), whereas A/J, C57BL/6J and SJL/J mice are resistant. Non-parametric sibling pair linkage analysis identified evidence of linkage (LOD = 2.5; p = 0.02) of EARR with microsatellite D18S64 (tightly linked to TNFRSF11A, also known as RANK). There is significant linkage disequilibrium of IL-1B (p = 0.0003), and OPG (p = 0.003) with EARR. RRAOF increases in Il1b KO (p < or = 0.013), and increases in P2rx7 KO (p < 0.02) mice compared to wild-type. Genetic factors play a marked role in EARR concurrent with orthodontic force, accounting for one-half to two-thirds of the variation. Two pathways for this may involve: 1) activation control of osteoclasts through the ATP/P2XR7/IL-1B inflammation modulation pathway; and 2) RANK/RANKL/OPG osteoclast activation control. Histological RR occurs and is typically healed. If resorption outpaces healing, then EARR develops. Normal and parafunctional forces, as well as orthodontic forces, may add to or interact with the individual's susceptibility to pass the threshold of developing EARR.
| S-EPMC5161460 | biostudies-literature
Project description:As genetic variation accounts for two-thirds of the variation in external apical root resorption (EARR) concurrent with orthodontic treatment, we analyzed the association of selected genetic and treatment-related factors with EARR concurrent with orthodontic treatment.This case-control study of 134 unrelated, orthodontically treated Caucasian individuals was conducted in part at an Indiana Private Practice, Indiana University and the University of Kentucky.Utilizing a research data bank containing information from ~1450 orthodontically treated patients, pre- and post-treatment radiographs from 460 individuals were evaluated for EARR of the four permanent maxillary incisors. Sixty-seven unrelated Caucasians with moderate to severe EARR were identified and were age-/sex-matched with orthodontically treated Caucasian controls yielding 38 females and 29 males per group. Factors tested for an association with EARR included the following: 1) treatment duration, 2) extraction of maxillary premolars, 3) numerous cephalometric measurements, and 4) DNA polymorphisms within/near candidate genes in a pathway previously implicated in EARR such as the purinergic-receptor-P2X, ligand-gated ion channel 7 (P2RX7; rs208294, rs1718119, and rs2230912), caspase-1 (CASP1; rs530537, rs580253, and rs554344), interleukin-1 beta (IL1B; rs1143634), interleukin-1 alpha (IL1A; rs1800587), and interleukin-1 receptor antagonist (IL1RA; rs419598) genes. Stepwise logistic regression was utilized to identify the factors significantly associated (significance taken at or less than the layered Bonferroni correction alpha) with the occurrence of EARR.A long length of treatment and the presence of specific genotypes for P2RX7 SNP rs208294 were significantly associated with EARR.EARR occurrence was associated with both genetic and treatment-related variables, which together explained 25% of the total variation associated with EARR in the sample tested.
| S-EPMC4810020 | biostudies-literature
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.
| S-EPMC7109605 | biostudies-literature
Project description:Orthodontic-induced external apical root resorption (EARR) is a severe condition affecting the roots of the teeth, whose genetic causes have been inconclusive to date. The aim of the present study was to assess the influence of selected single nucleotide polymorphisms (SNPs) IL-1β, TNFRSF11B, CASP1, and IL-6 genes on post-orthodontic EARR. A sample of 101 patients with clearly assessable orthopantomograms and lateral cephalometric radiographs taken before and at the end of the orthodontic treatment was used to evaluate the presence of EARR. The association between genetic polymorphisms and EARR was assessed with the Chi2 test. A binary logistic multi-level model was built to evaluate the ability of patient- and tooth-level variables to predict EARR occurrence. The overall prevalence of EARR resulted to be around 40%. Within the limitations of this study, a significant association was found between EARR presence and the SNP for the IL-1β gene but not for the TNFRSF11B, CASP1, and the IL-6 genes. The final multi-level model demonstrated that the SNP for the IL-1β gene increases the odds of developing EARR by around four times. Since there is currently no accurate method to determine which patients will develop EARR prior to orthodontic treatment, further studies are needed to investigate the predictive ability of further genetic variants on EARR development.
| S-EPMC8469359 | biostudies-literature
Project description:ObjectiveTo determine whether orthodontic treatment with removable aligners vs fixed orthodontic appliances is associated with a different frequency of orthodontically induced external apical root resorption (OIEARR) when genetic, radiographic, and clinical factors are accounted for.Materials and methodsThree hundred seventy-two orthodontic patients treated with removable aligners (Invisalign) or fixed appliances were genetically screened for interleukin 1B gene (IL1B) (rs1143634), interleukin 1 receptor antagonist gene (IL1RN) (rs419598), and osteopontin gene (SPP1) (rs9138/rs11730582). Twelve clinical variables, potentially associated with OIEARR, were also considered. Subjects were divided according to the presence of radiographically determined OIEARR (>2 mm). The association between OIEARR and appliance type, and radiographic, clinical and genetic factors, was assessed using backward stepwise conditional logistic regression. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported.ResultsReliability of the methods was adequate. Clinical case complexity (American Board of Orthodontics [ABO] Discrepancy Index) (OR: 1.032; 95% CI: 1.005-1.061; P = .021) and extent of incisor apical displacement in the sagittal plane (OR: 1.478; 95% CI: 1.285-1.699; P = .001) were associated with an increased OIEARR risk. After adjusting for associations between clinical/radiographic/genetic factors, there were no statistically significant differences with respect to OIEARR or type of orthodontic appliance used, whether removable aligners or fixed appliances (OR: 1.662; 95% CI: 0.945-2.924; P = .078). Only subjects homozygous for the T allele of IL1RN (rs419598) were more prone to OIEARR during orthodontic treatment (OR: 3.121; CI: 1.93-5.03; P < .001).ConclusionsA similar OIEARR predisposition was identified using either removable aligners (Invisalign) or fixed appliances.
| S-EPMC8388604 | biostudies-literature
Project description: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.
| S-EPMC7712155 | biostudies-literature
Project description:BackgroundExternal root resorption is a pathological process, which tends to occur following a wide range of mechanical or chemical stimuli such as infection, pressure, trauma or orthodontic tooth movement. Although it is predominantly detected by radiography, in some cases root resorption may be identified by clinical symptoms such as pain, swelling and mobility of the tooth. Treatment alternatives are case-dependent and aim to address the cause of the resorption and aid the regeneration of the resorptive lesion.ObjectivesTo evaluate the effectiveness of any interventions that can be used in the management of external root resorption in permanent teeth.Search methodsThe following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 14 October 2015), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library, 2015, Issue 9), MEDLINE via OVID (1946 to 14 October 2015) and EMBASE via OVID (1980 to 14 October 2015). We searched the US National Institutes of Health Trials Register (http://clinicaltrials.gov) and the WHO Clinical Trials Registry Platform for ongoing trials. No restrictions were placed on the language or date of publication when searching the electronic databases.Selection criteriaWe included randomised controlled trials of permanent teeth with any type of external root resorption, which has been confirmed by clinical and radiological examination, comparing one type of intervention (root canal medications and canal filling, splinting or extraction of teeth or the surgical removal of any relevant pathology) with another, or with placebo or no treatment.Data collection and analysisTwo review authors screened search records independently. Full papers were obtained for potentially relevant trials. If data had been extracted, the statistical guidelines set out in the Cochrane Handbook would have been followed.Main resultsNo randomised controlled trials that met the inclusion criteria were identified. However, we identified one ongoing study that is potentially relevant to this review and will be assessed when it is published.Authors' conclusionsWe were unable to identify any reports of randomised controlled trials regarding the efficacy of different interventions for the management of external root resorption. In view of the lack of reliable evidence on this topic, clinicians must decide on the most appropriate means of managing this condition according to their clinical experience with regard to patient-related factors. There is a need for well designed and conducted clinical trials on this topic, which conform to the CONSORT statement (www.consort-statement.org/).
| S-EPMC7185846 | biostudies-literature