Publication details

The possible relationship between PAX9 gene polymorphisms and tooth agenesis in the Czech population



Year of publication 2014
Type Conference abstract
MU Faculty or unit

Faculty of Science

Description Tooth agenesis is the most prevalent craniofacial congenital malformation in humans. Under the term tooth agenesis we understand absence of one or more teeth in the dentition. Up to 25 % of the population may lose at least one third molar. Agenesis of other permanent teeth, excluding third molars, ranges from 1,6 to 9,6 %, depending on the population studied. Primary dentition may also be affected, but with lower prevalence (from 0,5 to 0,9 %). This disorder can have a variety of causes – from the influence of local causes during the formation of tooth germs primarily to the influence of genetic factors. Odontogenesis is very complicated and complex process involving over 300 so far identified that mediate interplay between cells of dental epithelium and adjacent mesenchyme. These molecules interact each other and create a complex system of regulatory linkages which monitors and controls the entire process of odontogenesis. Polymorphism in a gene, that encodes a protein involved in odontogenesis, may cause its malfunction. Even a very small change in the protein or regulatory process that is involved in spatio-temporally cohesion between the individual protein interactions, can adversely affect the tooth development and eventually stop it completely. Among the most studied genes associated with the tooth agenesis belong PAX9, MSX1 and AXIN2 genes. We focused on PAX9 gene as one of the transcription factors and examined the possible relationship between the PAX9 gene polymorphisms and tooth agenesis in the Czech population. The most important results of our study seem to be insertion 99–101insC with simultaneous substitution 272C in exon 1, substitution 605C in exon 3 and substitutions -54A and -41A in intron sequences adjacent to exon 3, that will be studied further for their possible effect on tooth agenesis in the Czech population.
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