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The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

ABSTRACT: Background:The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 (PAX9). The expression of PAX9 is controlled by several polymorphic elements in the promoter region of the gene on 14q13.3 locus. The aim of this study was to find any association between PAX9 c.-912T>C (rs2073247) and c.-1031G>A (rs2073244) promoter polymorphisms and the development of hypodontia among the Jordanian population. Methods:Genotyping of the polymorphisms in 72 unrelated subjects with hypodontia was performed using PCR-restriction fragment length polymorphism (RFLP) technique and compared with that of 72 normal healthy unrelated control individuals. Results:The hypodontia group had a significantly higher -1031GG genotype (P<0.01) and a significantly lower -912TC genotype (P<0.01) compared with the control group. The results suggest that the transcriptional activity of PAX9 gene is affected by polymorphisms in the promoter region of this gene and is associated with hypodontia phenotype. Conclusion:The rs2073247) and rs2073244 promoter polymorphisms of PAX9 might play a role in the development of hypodontia in the Jordanian population.

SUBMITTER: Abu-Siniyeh A

PROVIDER: S-EPMC6254497 | biostudies-other | 2018

REPOSITORIES: biostudies-other

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The role of <i>PAX9</i> promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Abu-Siniyeh Ahmed A Khabour Omar F OF Owais Arwa I AI

The application of clinical genetics 20181121

<h4>Background</h4>The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 (<i>PAX9</i>). The expression of <i>PAX9</i> is controlled by several polymorphic elements in the promoter region of the gene on 14q13.3 locus. The aim of this study was to find any association between <i>PAX9</i> c.-912T>C (rs2073247) and c.-1031G>A (rs20 ...[more]

PMID: 30538524

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Project description:BackgroundThis study aimed to investigate the genetic association of specific Single Nucleotide Polymorphisms (SNPs) within the muscle segment homeobox gene 1 (MSX1) with susceptibility to the peg-shaped teeth in 36 Jordanian Arab families and case-control samples in the Jordanian Arab population.MethodsThis cohort involved 108 individuals (36 trios families), which were used for family-based genetic study. Additionally, 56 patients and 57 controls were used for case-control study. Genomic DNA samples from both families and case-control were extracted according to distinguished processes. Then, polymerase chain reaction technique (PCR) was conducted using specific primers for the axons of the MSX1. Moreover, DNA sequencing genotyping method analysis of SNPs was used to detect specified SNPs in the MSX1 linked with peg-shaped teeth. Hardy-Weinberg Equilibrium and Chi-square were used to evaluate the data quality and the presence of any genotypic error. In addition, Transmission Disequilibrium Test (TDT) was used identify family-based association in which trios of parents and proband are used.ResultsThe results of this study showed fourteen polymorphic sites in this gene, eight of them (rs121913129, rs104893852, rs104893853, rs121913130, rs104893850, rs1095, rs3775261, and rs1042484) were none-polymorphic. Meanwhile, the minor allele frequencies of the rest of the SNPs were polymorphic (rs8670, rs12532, rs3821949, rs4464513, rs1907998, and rs6446693). However, none of these SNPs were associated with peg-shaped teeth. Moreover, the haplotype genetic analysis revealed that there was no genetic association with peg-shaped teeth disorder susceptibility (P > 0.05) in the Jordanian families of Arab descent.ConclusionsThe present findings can be used in estimation of prevalence of peg-shaped teeth in the Jordanian population. However, our findings revealed that there is no evidence that the MSX1 polymorphisms had a crucial role in the peg-shaped teeth phenomenon, emphasizing that other genes might have this role. These findings are beneficial for clinicians to comprehensively understand the molecular aspects of teeth abnormalities.

Dataset Information

The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Publications

The role of <i>PAX9</i> promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

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