Email updates

Keep up to date with the latest news and content from BMC Genomics and BioMed Central.

Open Access Research article

PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study

Eren Isman1*, Suleyman Nergiz2, Hasan Acar3 and Zafer Sari4

Author Affiliations

1 Department of Orthodontics, Faculty of Dentistry, Gaziantep University, Gaziantep 27310, Turkey

2 Department of Biochemistry, Selcuklu Faculty of Medicine, Selcuk University, Konya, Turkey

3 Department of Medical Genetics, Faculty of Medicine, Selcuk University, Konya, Turkey

4 Department of Orthodontics, Faculty of Dentistry, Akdeniz University, Antalya, Turkey

For all author emails, please log on.

BMC Genomics 2013, 14:733  doi:10.1186/1471-2164-14-733

Published: 26 October 2013



Hypodontia, the congenital absence of one or a few teeth is one of the most common alterations of the human dentition. Familial hypodontia is caused by mutations in PAX9, Msx1 and Axin2 genes. Limited numbers of studies are present to show etiological factors beyond this anomaly in Turkish community belonging to Caucasian racial family. The purpose of this study is to investigate the relationships between the two different single nucleotide polymorphisms that are G-1031A and T-912C with hypodontia in Caucasians.

200 individuals having hypodontia and 114 normal individuals having all 32 teeth present were selected for the study. Blood samples were collected from each individual and DNA was extracted. To determine the polymorphisms, PCR-RFLP method was used.


The outcomes suggest that the individuals having AC haplotype carry less risk in having hypodontia compared with the rest of the haplotype groups (OR = 3.88; CI = 95%; p = 0.001). The ratio of GT haplotype is less in the hypodontia group meaning that the GT carriers are in risk group in terms of hypodontia risk.


These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional factors and activity of this gene and are associated with hypodontia in Caucasian individuals.

PAX9; Hypodontia; Tooth agenesis; Oral genetics; Polymorphism; RFLP