# Investigating the Role of Genetic Polymorphisms in External Apical Root Resorption Among Orthodontic Patients: Implications for Treatment Outcomes—A Literature Review

**Authors:** Christina Charisi, Vasileios Zisis, Konstantinos Poulopoulos, Stefanos Zisis, Athanasios Poulopoulos, Dieter Müßig

PMC · DOI: 10.3390/reports8010014 · 2025-01-24

## TL;DR

This review explores how genetic differences may influence root resorption during orthodontic treatment and highlights genes that could affect treatment outcomes.

## Contribution

The paper identifies specific genes potentially linked to external apical root resorption in orthodontic patients and discusses their clinical implications.

## Key findings

- Genes like Osteopontin, IL-1β, and VDR are positively associated with orthodontically induced external apical root resorption.
- The IRAK1 gene appears to have a protective effect against root resorption.
- Current research is insufficient to develop clinical guidelines based on genetic factors.

## Abstract

Background: Among the various forms of root resorption, External Apical Root Resorption (EARR) has garnered particular attention due to its prevalence and potential complications associated with orthodontic interventions. Methods: An electronic search of literature was performed between September 2024 and December 2024 to identify all articles investigating the Role of Genetic Polymorphisms in External Apical Root Resorption Among Orthodontic Patients: Implications for Treatment Outcomes. The search was conducted using MEDLINE (National Library of Medicine)-PubMed with restrictions concerning the date of publication. In particular, we focused on the period 2014–2024 using the following keywords: gene polymorphisms AND orthodontic treatment AND apical root resorption OR external apical root resorption. This was followed by a manual search, and references were used to identify relevant articles. Results: The review showed that certain variations of the following genes may be positively associated with OIEARR: Osteopontin gene, P2RX7, IL-1β, IL-6, IL1RN, OPG, RANK, STAG2, RP1-30E17.2, SSP1, SFRP2, TNFSF11, TNFRSF11A, TNFRSF11B, VDR, CYP27B1, ACT3N, TSC2, WNT3A, LRP1, LRP6. Conversely, the IRAK1 gene has a protective function against the development of OIEARR. Conclusions: Despite these advancements, it is still not feasible to establish new guidelines and clinical protocols based on the existing research findings. The integration of genetic considerations into orthodontic practice has the potential to revolutionize treatment strategies, ensuring that they are not only effective but also respectful of each patient’s unique biological landscape.

## Linked entities

- **Genes:** P2RX7 (purinergic receptor P2X 7) [NCBI Gene 5027], IL1B (interleukin 1 beta) [NCBI Gene 3553], IL6 (interleukin 6) [NCBI Gene 3569], IL1RN (interleukin 1 receptor antagonist) [NCBI Gene 3557], BTF3P11 (basic transcription factor 3 pseudogene 11) [NCBI Gene 690], TNFRSF11A (TNF receptor superfamily member 11a) [NCBI Gene 8792], STAG2 (STAG2 cohesin complex component) [NCBI Gene 10735], SENP6 (SUMO specific peptidase 6) [NCBI Gene 26054], SFRP2 (secreted frizzled related protein 2) [NCBI Gene 6423], TNFSF11 (TNF superfamily member 11) [NCBI Gene 8600], TNFRSF11A (TNF receptor superfamily member 11a) [NCBI Gene 8792], TNFRSF11B (TNF receptor superfamily member 11b) [NCBI Gene 4982], VDR (vitamin D receptor) [NCBI Gene 7421], CYP27B1 (cytochrome P450 family 27 subfamily B member 1) [NCBI Gene 1594], TSC2 (TSC complex subunit 2) [NCBI Gene 7249], WNT3A (Wnt family member 3A) [NCBI Gene 89780], LRP1 (LDL receptor related protein 1) [NCBI Gene 4035], LRP6 (LDL receptor related protein 6) [NCBI Gene 4040], IRAK1 (interleukin 1 receptor associated kinase 1) [NCBI Gene 3654]

## Full-text entities

- **Genes:** SENP6 (SUMO specific peptidase 6) [NCBI Gene 26054] {aka SSP1, SUSP1}, LRP1 (LDL receptor related protein 1) [NCBI Gene 4035] {aka A2MR, APOER, APR, CD91, DDH3, IGFBP-3R}, SFRP2 (secreted frizzled related protein 2) [NCBI Gene 6423] {aka FRP-2, SARP1, SDF-5}, TNFRSF11A (TNF receptor superfamily member 11a) [NCBI Gene 8792] {aka CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7}, IRAK1 (interleukin 1 receptor associated kinase 1) [NCBI Gene 3654] {aka IRAK, pelle}, STAG2 (STAG2 cohesin complex component) [NCBI Gene 10735] {aka HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B}, WNT3A (Wnt family member 3A) [NCBI Gene 89780], IL1RN (interleukin 1 receptor antagonist) [NCBI Gene 3557] {aka CRMO2, DIRA, ICIL-1RA, IL-1RN, IL-1ra, IL-1ra3}, LRP6 (LDL receptor related protein 6) [NCBI Gene 4040] {aka ADCAD2, EVR8, OPTA4, STHAG7}, TSC2 (TSC complex subunit 2) [NCBI Gene 7249] {aka LAM, PPP1R160, TSC4}, P2RX7 (purinergic receptor P2X 7) [NCBI Gene 5027] {aka P2X7}, IL6 (interleukin 6) [NCBI Gene 3569] {aka BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2}, CYP27B1 (cytochrome P450 family 27 subfamily B member 1) [NCBI Gene 1594] {aka CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR}, TNFSF11 (TNF superfamily member 11) [NCBI Gene 8600] {aka CD254, ODF, OPGL, OPTB2, RANKL, TNLG6B}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, TNFRSF11B (TNF receptor superfamily member 11b) [NCBI Gene 4982] {aka OCIF, OPG, PDB5, TR1}, VDR (vitamin D receptor) [NCBI Gene 7421] {aka NR1I1, PPP1R163}, SPP1 (secreted phosphoprotein 1) [NCBI Gene 6696] {aka BNSP, BSPI, ETA-1, OPN}
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC12199927