Understanding the implications of the PAX9 Gene in tooth development

Authors:

C. Arcuri
Department of Dentistry, University of Rome Tor Vergata, Rome, Italy
I. Zito
Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy
F. Santini
Department of Dentistry, University of Rome Tor Vergata, Rome, Italy
F. Muzzi
Department of Dentistry, University of Rome Tor Vergata, Rome, Italy
V. Panetta
Medical Statistics and Information Technology Fatebenefratelli Association for the Research, Rome, Italy
R. Squitti
Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy

ABSTRACT

Aim

Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been
associated with nonsyndromic forms.

Methods

To investigate the molecular mechanisms, we evaluated
specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population.

Results

Presence of His239His and the Ala240Pro were confirmed in exon 3 of the Pax9 gene. A frequency of 20.2
of the T allele at position 717 and a C frequency of 33 of Ala240Pro polymorphism, that reached 40.5 in the
control group, were observed. The 39 C/C-240 C/C or G/Chaplotype which we defined Pax9hapl a had a proportion of
61.9 in control individuals. The frequency of Pax9hapl a tested in the patients was different from controls, being
81.3 in normalcy and 18.8 in oligodontia (p<0.05).

Conclusion

Our observations suggest that Pax9hapl a
may have a protective effect against sporadic oligodontia.

PLUMX METRICS

Publication date:

Dec /2011

Keywords:

hypodontia, pax9 gene, tooth agenesis

Issue:

Vol.12 – n.4/2011

Page:

245 – 248

Publisher:

Ariesdue

Cite:

Harvard: C. Arcuri, I. Zito, F. Santini, F. Muzzi, V. Panetta, R. Squitti (2011) "Understanding the implications of the PAX9 Gene in tooth development", European Journal of Paediatric Dentistry, 12(4), pp245-248. doi:

Vancouver: C. Arcuri, I. Zito, F. Santini, F. Muzzi, V. Panetta, R. Squitti. Understanding the implications of the PAX9 Gene in tooth development. European Journal of Paediatric Dentistry [Internet]. 2011Dec.1 [cited 2025Dec.05];12(4):245-248. Available from: https://www.ejpd.eu/abstract-pubmed/understanding-the-implications-of-the-pax9-gene-in-tooth-development/

MLA: C. Arcuri, I. Zito, F. Santini, F. Muzzi, V. Panetta, R. Squitti Understanding the implications of the PAX9 Gene in tooth development. European Journal of Paediatric Dentistry. 2011;12(4):245-248

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.