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.

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

References

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Published

2021-12-30

How to Cite

TOPÂRCEAN, A. M., ACATRINEI, A., RUSU, I., MIRCEA, C., FEȘTILĂ, D., LUCACIU, O. P., CÂMPIAN, R. S., BODO, O., KELEMEN, B., & GHERGIE, M. C. D. (2021). Preliminary data regarding the influence of the COL1a1 rs2249492 polymorphism on the risk of malocclusion in the Romanian population. Studia Universitatis Babeș-Bolyai Biologia, 66(2), 45–51. https://doi.org/10.24193/subbbiol.2021.2.03

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