AMBIENTUM BIOETHICA BIOLOGIA CHEMIA DIGITALIA DRAMATICA EDUCATIO ARTIS GYMNAST. ENGINEERING EPHEMERIDES EUROPAEA GEOGRAPHIA GEOLOGIA HISTORIA HISTORIA ARTIUM INFORMATICA IURISPRUDENTIA MATHEMATICA MUSICA NEGOTIA OECONOMICA PHILOLOGIA PHILOSOPHIA PHYSICA POLITICA PSYCHOLOGIA-PAEDAGOGIA SOCIOLOGIA THEOLOGIA CATHOLICA THEOLOGIA CATHOLICA LATIN THEOLOGIA GR.-CATH. VARAD THEOLOGIA ORTHODOXA THEOLOGIA REF. TRANSYLVAN
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Autori: ADINA MARIA TOPÂRCEAN, ARINA ACATRINEI, IOANA RUSU, CRISTINA MIRCEA, DANA FEȘTILĂ, ONDINE PATRICIA LUCACIU, RADU SEPTIMIU CÂMPIAN, ODETTE BODO, BEATRICE KELEMEN, MIRCEA CONSTANTIN DINU GHERGIE.
DOI: 10.24193/subbbiol.2021.2.03
Published Online: 2021-12-20
Published Print: 2021-12-30
pp. 45-51
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Article history: Received 1 October 2021; Revised 19 November 2021;
Accepted 26 November 2021; Available online 20 December 2021
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.
Keywords: malocclusion, COL1a1, rs2249492, cephalometric measurements, SNP
