Papadopoulos S, Ziakas I, Panteris E, Chatzigianni A
Faculty of Dentistry, School of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Biomic_AUTh, CIRI-AUTH Center for Interdisciplinary Research and Innovation, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Clin Oral Investig. 2025 Sep 22;29(10):469. doi: 10.1007/s00784-025-06520-0.
The aim of this review was to identify genes and genetic traits that cause tooth impaction by systematically collecting the best available evidence.
Relevant literature was searched on 10 databases up to March 2025 and search criteria were formulated using the PECOS and PRISMA guidelines. The eligibility criteria included case-control, cohort and cross-sectional observational studies, which examined human subjects regardless of age or sex and focused on the analysis of genes, alleles, gene variants, non-coding RNAs, or other genetic factors that cause tooth impaction. The risk of bias of eligible studies was evaluated using the Joanna Briggs Institute (JBI) Critical Appraisal Checklists.
Overall, 15 studies met the inclusion criteria. Several important genes were highlighted and mutations and polymorphism in these genes showed an increase in the risk of tooth impaction. Specifically, MSX1 rs12532, PAX9 rs4904210 and rs2073247, AXIN2 rs2240308, as well as MSX2 rs4868444 and ARNT2 rs140220410 revealed significant association with canine, third molar or general tooth impaction. Synergistic effects of some gene genotypes were also addressed. The third molar impaction was associated with specific long non-coding RNAs of the corresponding dental follicles, and with the individual's blood group. According to the JBI checklist, the studies showed high methodological quality.
Three key genes, namely MSX1, PAX9 and AXIN2, appear to have an important role in tooth impaction. Moreover, limited evidence suggests that long non-coding RNAs and the type of individual's blood group could be potential biomarkers of tooth impaction. However, the contradictory results from the included studies reduce the certainty of any solid conclusions. Additional studies with large samples involving advanced methodologies for genetic testing are essential to pinpoint the underlying genetic factors of tooth impaction.
Understanding the genetic factors and specific mutations behind tooth impaction, may enhance early diagnosis, prevention of impaction and treatment.
本综述的目的是通过系统收集现有最佳证据，确定导致牙齿阻生的基因和遗传特征。
截至2025年3月，在10个数据库中检索相关文献，并根据PECOS和PRISMA指南制定检索标准。纳入标准包括病例对照研究、队列研究和横断面观察性研究，这些研究对人类受试者进行了检查，不考虑年龄或性别，重点分析导致牙齿阻生的基因、等位基因、基因变异、非编码RNA或其他遗传因素。使用乔安娜·布里格斯研究所（JBI）批判性评价清单评估符合条件的研究的偏倚风险。
总体而言，15项研究符合纳入标准。突出了几个重要基因，这些基因中的突变和多态性显示牙齿阻生风险增加。具体而言，MSX1 rs12532、PAX9 rs4904210和rs2073247、AXIN2 rs2240308，以及MSX2 rs4868444和ARNT2 rs140220410与尖牙、第三磨牙或一般牙齿阻生显著相关。还讨论了一些基因基因型的协同作用。第三磨牙阻生与相应牙囊的特定长链非编码RNA以及个体血型有关。根据JBI清单，这些研究显示出较高的方法学质量。
三个关键基因，即MSX1、PAX9和AXIN2，似乎在牙齿阻生中起重要作用。此外，有限的证据表明长链非编码RNA和个体血型类型可能是牙齿阻生的潜在生物标志物。然而，纳入研究的矛盾结果降低了任何确凿结论的确定性。采用先进基因检测方法的大样本额外研究对于确定牙齿阻生的潜在遗传因素至关重要。
了解牙齿阻生背后的遗传因素和特定突变，可能会加强早期诊断、预防阻生和治疗。
