tooth agenesis | Acta Medica Marisiensis

Association Between Tooth Agenesis and Polymorphisms of FGFR1, IRF6, MSX1 and PAX9 Genes in Patients from Tîrgu Mureş

Kerekes-Máthé Bernadette¹, Jobbágy-Óvári Gabriella², Székely Melinda¹, Cămărăşan Alina¹, Borş Andreea¹, Mucenic Simona¹, Varga G²

1 Department of Morphology of Teeth and Dental Arches; Technology of Dental Prosthesis and Dental Materials, Faculty of Dental Medicine, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
2 Department of Oral Biology, Semmelweis University, Budapest, Hungary

Aim: Tooth agenesis is the most prevalent congenital malformation in humans. Many studies showed the importance of genetic factors in the emergence of tooth agenesis. MSX1, PAX9, PVRL1, IRF6, FGFR1, AXIN2 are genes involved in tooth agenesis. In this study we attempted to determine genetic traits data of patients from Tîrgu Mureş regarding tooth agenesis.
Material and method: Thirtyfour patients with tooth agenesis and 51 healthy volunteers were examined. Oral mucosal scrapings were collected from all the subjects. DNA was isolated and a genotyping experiment was performed. The procedures included four single nucleotide polymorphisms (SNPs): PAX9 -912 C/T, MSX1 3755 A/G, FGFR1 T/C, and IRF6 A/G.
Results: Besides the dominant allele, we observed the presence of the rare allele as well in each investigated polymorphism. There was a statistically significant difference in the distribution of the FGFR1 T/C gene polymorphisms between the two groups (p=0.02). Differences in the distribution of the IRF6, MSX1 and PAX9 gene polymorphisms were not significant statistically (p>0.4).
Conclusions: Our study showed, that FGFR1 T/C (26190464) polymorphism is a significant risk factor for non-syndromic tooth agenesis, preferential premolar agenesis. PAX9 and MSX1 gene may be associated with syndromes that include tooth agenesis. Further investigations are needed.

Prevalence and Characteristics of Tooth Agenesis in Permanent Dentition of Subjects from Tîrgu Mureş

Kerekes-Máthé Bernadette¹, Mártha Krisztina², Székely Melinda¹

1 Department of Morphology of Teeth and Dental Arches, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Department of Pediatric Dentistry and Orthodontics, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2013-0043

Background: Identification of the characteristics of tooth agenesis is an important component in the understanding of the ethiology of this common developmental dental anomaly. The aim of the present study was to determine the prevalence and the characteristics of tooth agenesis among patients from Tîrgu Mureş.
Material and method: The present study is retrospective and descriptive, based on the evaluation of the patient’s dental records from 2004 to 2012 belonging to a pediatric dental office from Tîrgu Mureş. Orthopantomograms and anamnestic data of 947 children and young adults (365 male and 582 female) were analyzed.
Results: The prevalence of tooth agenesis, excluding third molars, was 7.39%. The difference between the genders was statistically not significant (p = 0.09). The most frequently missing teeth were the upper second incisors, followed by the lower second premolars. The difference between the distribution of agenesis in the upper and lower jaws was statistically significant (p <0.0001). The distribution of dental agenesis between the anterior region and the lateral region of the maxilla and the mandible showed significant differences (p <0.0001). Symmetrical distribution of tooth agenesis was found more frequently (54.54%) than assymetrical distribution.
Conclusions: The maxillary anterior region and the mandibular lateral region were the most affected by dental agenesis in the permanent dentition of the studied population. The maxilla was more affected than the mandible and bilateral forms of agenesis were more frequently than unilateral forms. The more extreme forms of agenesis were found amongst female.