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- Title
Preliminary data regarding the influence of the COLlal rs2249492 polymorphism on the risk of malocclusion in the Romanian population.
- Authors
Topârcean, Adina Maria; Acatrinei, Arina; Rusu, Ioana; Mircea, Cristina; Feştilă, Dana; Lucaciu, Ondine Patricia; Câmpian, Radu Septimiu; Bodo, Odette; Kelemen, Beatrice; Ghergie, Mircea Constantin Dinu
- 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.
- Publication
Studia Universitatis Babes-Bolyai, Biologia, 2021, Vol 66, Issue 2, p45
- ISSN
1221-8103
- Publication type
Academic Journal
- DOI
10.24193/subbbiol.2021.2.03