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

Eren Isman,Suleyman Nergiz,Hasan Acar,Zafer Sari

doi:10.1186/1471-2164-14-733

Eren Isman, Suleyman Nergiz + Show 2 more

Open Access

https://doi.org/10.1186/1471-2164-14-733

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Abstract

BackgroundHypodontia, 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.ResultsThe 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.ConclusionThese 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.

Highlights

Hypodontia, the congenital absence of one or a few teeth is one of the most common alterations of the human dentition
The most recent studies show that MSX1 [11], PAX9 [12,13], AXIN2 [14], TGFA [15], IRF6 [16], MMP1 and MMP20 [17], AXIN2 [18] and FGF3 [19] genes are related to sporadic type tooth agenesis
As studies of different ethnic populations are needed to ascertain the association between genetic polymorphisms of PAX9 and sporadic tooth agenesis [23], the purpose of this study was to investigate the relationship between two different single nucleotide polymorphisms (G-1031A and T-912C) (NCBI ref SNP ID: rs 2073247 and rs 2073244) of the PAX9 gene promoter region and hypodontia in a Turkish population which is a member of Caucasian racial family

Summary

Introduction

Hypodontia, the congenital absence of one or a few teeth is one of the most common alterations of the human dentition. The most recent studies show that MSX1 [11], PAX9 [12,13], AXIN2 [14], TGFA [15], IRF6 [16], MMP1 and MMP20 [17], AXIN2 [18] and FGF3 [19] genes are related to sporadic type tooth agenesis. Peters [20] declared that mice having a mutated PAX9 gene can show craniofacial abnormalities, extremity anomalies, and teeth developmental problems, such as halted tooth development during the bud phase. He added that all the members of a family having a frameshift mutated PAX9 gene had missing permanent first

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