Preliminary data regarding the influence of the COL1a1 rs2249492 polymorphism on the risk of malocclusion in the Romanian population

Authors

  • Adina Maria TOPÂRCEAN “Iuliu Hațieganu” University of Medicine and Pharmacy, Oral Rehabilitation Department, Cluj-Napoca, Romania.
  • Arina ACATRINEI Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania; University of Agricultural Sciences and Veterinary Medicine, Doctoral School of Agricultural Engineering Sciences, Cluj-Napoca, Romania. *Corresponding author: arina-lorena.acatrinei@usamvcluj.ro https://orcid.org/0000-0002-3712-4336
  • Ioana RUSU Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania; Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania.
  • Cristina MIRCEA Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania; Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania.
  • Dana FEȘTILĂ “Iuliu Hațieganu” University of Medicine and Pharmacy, Department of Conservative Odontology, Cluj-Napoca, Romania. https://orcid.org/0000-0003-3377-593X
  • Ondine Patricia LUCACIU “Iuliu Hațieganu” University of Medicine and Pharmacy, Oral Rehabilitation Department, Cluj-Napoca, Romania. https://orcid.org/0000-0002-0092-8955
  • Radu Septimiu CÂMPIAN “Iuliu Hațieganu” University of Medicine and Pharmacy, Oral Rehabilitation Department, Cluj-Napoca, Romania.
  • Odette BODO Dentalexpert Dentistry Practice, Cluj-Napoca, Romania.
  • Beatrice KELEMEN Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania; Babeș-Bolyai University, Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Cluj-Napoca, Romania. https://orcid.org/0000-0002-2989-2941
  • Mircea Constantin Dinu GHERGIE “Iuliu Hațieganu” University of Medicine and Pharmacy, Department of Conservative Odontology, Cluj-Napoca, Romania.

DOI:

https://doi.org/10.24193/subbbiol.2021.2.03

Keywords:

malocclusion, COL1a1, rs2249492, cephalometric measurements, SNP.

Abstract

Malocclusion is a condition characterized by diverse phenotypic expression patterns, with a complex underlying genetic background. COL1a1 is one of the genes that has been previously associated with malocclusion, with one particular SNP, rs2249492 (C>G, C>T), having been linked with an increased risk of skeletal class II malocclusion.

In this paper, making use of DNA sequencing and cephalometric measurements, we present preliminary data regarding the association between the rs2249492 SNP and the risk of malocclusion in the Romanian population, illustrated as continuous, rather than categorical phenotypes. The results show a tendency towards a Class II pattern determined by mandibular retrognathism, rather than maxillary prognathism among the individuals possessing the mutant allele. Subsequent studies on larger sample sizes should include statistical analysis focused on associations between the rs2249492 allele and continuous phenotypic variation inside, but not restricted to Class II malocclusion, in order to acquire a more detailed picture of the interaction between the polymorphism and this complex condition.

Toparcean et al (PDF)

Article history: Received 1 October 2021; Revised 19 November 2021; Accepted 26 November 2021; Available online 30 December 2021.

 

References

Da Fontoura, C. S. G., Miller, S. F., Wehby, G. L., Amendt, B. A., Holton, N. E., Southard, T. E., Allareddy, V., & Moreno Uribe, L. M. (2015). Candidate gene analyses of skeletal variation in malocclusion. Journal of Dental Research, 94(7), 913–920. https://doi.org/10.1177/0022034515581643

Dehesa-Santos, A., Iber-Diaz, P., & Iglesias-Linares, A. (2021). Genetic factors contributing to skeletal class III malocclusion: a systematic review and meta-analysis. Clinical Oral Investigations, 25(4), 1587–1612. https://doi.org/10.1007/s00784-020-03731-5

Doraczynska-Kowalik, A., Nelke, K. H., Pawlak, W., Sasiadek, M. M., & Gerber, H. (2017). Genetic factors involved in mandibular prognathism. Journal of Craniofacial Surgery, 28(5), e422–e431. https://doi.org/10.1097/SCS.0000000000003627

Ghergie, M., Festila, D., Kelemen, B., & Lupan, I. (2013). Myo1H Gene Single Nucleotide Polymorphism rs10850110 and the Risk of Malocclusion in the Romanian Population. Acta Medica Transilvanica, 2(42), 281–284.

Graber LW, RL, Jr, V., KWL, V., & GJ., H. (2017). Orthodontics: Current Principles and Techniques. (6th Ed. El).

Hardy, D. K., Cubas, Y. P., & Orellana, M. F. (2012). Prevalence of angle class III malocclusion: A systematic review and meta-analysis. Open Journal of Epidemiology, 02(04), 75–82. https://doi.org/10.4236/ojepi.2012.24012

Laviana, A., Thahar, B., Melani, A., Mardiati, E., Putri, L., & Zakyah, A. D. (2021). Role of matrilin-1 (MATN1) polymorphism in class III skeletal malocclusion with mandibular prognathism in Deutero-Malay race: a case-control study. Egyptian Journal of Medical Human Genetics, 22(1). https://doi.org/10.1186/s43042-021-00131-6

Li, Q., Zhang, F., Li, X., & Chen, F. (2010). Genome scan for locus involved in mandibular prognathism in pedigrees from China. PLoS ONE, 5(9), 1–4. https://doi.org/10.1371/journal.pone.0012678

Liu, Z., McGrath, C., & Hagg, U. (2009). The impact of malocclusion/orthodontic treatment need on the quality of life a systematic review. Angle Orthodontist, 79(3), 585–591. https://doi.org/10.2319/042108-224.1

Ma, J., Huang, J., & Jiang, J. hui. (2019). Morphological analysis of the alveolar bone of the anterior teeth in severe high-angle skeletal Class II and Class III malocclusions assessed with cone-beam computed tomography. PLoS ONE, 14(3), 1–13. https://doi.org/10.1371/journal.pone.0210461

Moreno Uribe, L. M., & Miller, S. F. (2016). Genetics of the dentofacial variation in human malocclusion. Physiology & Behavior, 176(1), 100–106. https://doi.org/10.1111/ocr.12083.Genetics

Nishio, C., & Huynh, N. (2016). Skeletal Malocclusion and Genetic Expression: An Evidence-Based Review. Journal of Dental Sleep Medicine, 03(02), 57–63. https://doi.org/10.15331/jdsm.5720

Weaver, C. A., Miller, S. F., da Fontoura, C. S. G., Wehby, G. L., Amendt, B. A., Holton, N. E., Allareddy, V., Southard, T. E., & Moreno Uribe, L. M. (2017). Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion. American Journal of Orthodontics and Dentofacial Orthopedics, 151(3), 539–558. https://doi.org/10.1016/j.ajodo.2016.08.027

Xue, F., Wong, R. W. K., & Rabie, A. B. M. (2010). Genes, genetics, and Class III malocclusion. Orthodontics and Craniofacial Research, 13(2), 69–74. https://doi.org/10.1111/j.1601-6343.2010.01485.x

Zabrina, S., Ramadhanti, Jazaldi, F., Gultom, F. P., & Auerkari, E. I. (2021). Genetic and epigenetic aspects of class III malocclusion with mandibular prognathism phenotypes. AIP Conference Proceedings, 2344(March), 10–16. https://doi.org/10.1063/5.0047282

Published

2021-12-30

Issue

Vol. 66 No. 2 (2021)

Section

Research article

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