Suggestive Associations Between Polymorphisms in PAX9, MSX1 Genes and Third Molar Agenesis in Humans

Saito, Cristiane Pereira Borges; Bianchi, F.; Peres, Regina Célia Rocha; Line, Sérgio Roberto Peres

doi:10.2174/138920206777780256

Cited by 4 publications

(4 citation statements)

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“…However, PAX9-rs2073247 and other polymorphisms located adjacent to this locus in the promoter region are also known to be associated with third molar agenesis. Saito et al 30 and Bianchi et al 31 reported that the CC genotype of the PAX9-rs2073247 showed a positive association with third molar agenesis. Peres et al 32 also suggested that the GT haplotype of PAX9-rs 2073244 and rs2076246 polymorphisms was associated with hypodontia, in most cases including third molar agenesis.…”

Section: Discussionmentioning

confidence: 99%

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

Seo

Park

Kim

et al. 2013

The Angle Orthodontist

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Objective: To investigate the association between the risk of tooth agenesis and single-nucleotide polymorphisms (SNPs) of MSX1 and PAX9 genes in nonsyndromic cleft patients. Materials and Methods: The subjects were 126 Korean nonsyndromic cleft patients. Tooth agenesis type (TAT) was classified as none (0); cleft area (1); cleft area + other area (2); and other area (3) based on agenesis of the maxillary lateral incisor (MXLI) and another tooth within or outside the cleft area. TAT was further grouped into two subcategories (0 and 1) and four subcategories (0, 1, 2, and 3). Three SNPs of MSX1 and 10 SNPs of PAX9 were investigated using Fisher's exact test and logistic regression analysis. Results: Although the association between genotype distribution of PAX9-rs7142363 and TAT was significant (P , .05 in four subcategories), genotypic odds ratios (GORs) of SNPs in each TAT were not meaningful. However, for MSX1-rs12532 and PAX9-rs2073247, associations between genotypic distribution and TAT were significant (P , .01 in four subcategories and P , .05 in two subcategories; P , .01 in two subcategories, respectively). In cleft area, GORs of MXLI agenesis in genotypes GA of MSX1-rs12532 and CT of PAX9-rs2073247 were increased by 3.14-fold and 4.15-fold compared with genotype GG of MSX1-rs12532 and CC of PAX9-rs2073247, respectively (P ,. 01; P , .05). In cleft area + other area, the GOR of agenesis of MXLI and another tooth in genotype AA of MSX1-rs12532 was increased by fivefold compared with genotype GG (P , .05). Conclusion: Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area. (Angle Orthod. 2013;83:1036-1042

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Section: Discussionmentioning

confidence: 99%

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

Seo

Park

Kim

et al. 2013

The Angle Orthodontist

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“… 4 – 6 , 18 – 20 , 24 , 28 . Three other polymorphic alleles (T-160C, G–1031A and T–912C) located close to the polymorphic region evaluated here were also associated with hypodontia in humans 22 .…”

Section: Discussionmentioning

confidence: 51%

“…Previous studies have shown that two polymorphisms in the PAX9 promoter region seem to be associated to the dental agenesis in human beings (G-1031A, T-912C T-160C). The purpose of the present study was to investigate whether the G-915C single nucleotide polymorphism (SNPs) in the PAX9 gene promoter is associated with hypodontia in humans 15 , 22 .…”

Section: Introductionmentioning

confidence: 99%

Association between polymorphism in the promoter region (G/C-915) of PAX9 gene and third molar agenesis

et al. 2007

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Purpose:Hypodontia is the congenital absence of one or more (up to six) permanent and/or deciduous teeth, being one of the most common alterations of the human dentition. Genetic polymorphisms are variations of DNA sequences occurring in a population. This study investigated whether G-915C single nucleotide polymorphism (SNPs) in the PAX9 gene promoter is associated with hypodontia in humans.Material and Methods:The polymorphism in region G/C-915 of PAX9 gene (NCBI ref SNP ID: rs 2073247) of 240 patients was analyzed, being 110 controls and 130 individuals with third molar agenesis. After DNA extraction, the region of interest was amplified by PCR technique using two different primers. The significance of the differences in observed frequencies of polymorphisms in both groups was assessed by odds-ratio and chi-squared test with 95% confidence interval.Results:Genotype CC was more frequent in patients with agenesis (11.5%) compared to the control (1.8%), while GG was more prevalent in the control group (39.1%) compared to the individuals with agenesis (26.2%).Conclusion:These data showed that the allele C could be associated with the third molar agenesis.

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“…Studies in the past have linked specific single nucleotide polymorphisms (SNPs) in MSX1 and PAX9 , increasing the probability of sporadic type agenesis of second premolars, first molars and third molars (Bianchi et al, 2007; Paixao-Cortes et al, 2011; Peres et al, 2005; Saito et al, 2006; Vastardis et al, 1996). Studies by Peck et al in the past have shown that about 40% of cases with PDCs presented with agenesis of any one of the third molars (Peck et al, 1996, 2002).…”

Section: Introductionmentioning

confidence: 99%

Role of polymorphisms of MSX1 and PAX9 genes in palatal impaction of maxillary canines

Devi

Padmanabhan

2019

J Orthod

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Objective: Maxillary canines are the second-most commonly impacted teeth. About two-thirds of the impacted maxillary canines are palatally impacted. Studies in the past have shown that 40% of cases with palatal impaction of maxillary canines presented with agenesis of third molars. Sporadic agenesis of third molars have been associated with polymorphisms in the MSX1 and PAX9 genes. The present study aims at evaluating the association between polymorphisms of PAX9, MSX1 and palatally impacted canines in a random population sample. Design and setting: Fifty individuals with palatally impacted maxillary canines and 50 gender and age-matched controls were included in this study. Methods: Single nucleotide polymorphisms (SNPs), rs12532 of MSX1 and rs2073247 of PAX9, were genotyped using polymerase chain reaction and restriction fragment length polymorphism. The significance of the differences among the groups was assessed by odds ratio and Chi-squared test with a 95% confidence interval Results: Single nucleotide polymorphisms rs12532 [MSX1] and rs 2073247 [PAX9] showed a statistically significant association with palatal impaction of maxillary canines. In addition, the combined presence of the AG/CT genotypes of these genes in an individual caused a significant increase in the risk for palatal impaction. Conclusion: These results suggest that the rs12532 and rs2073247 polymorphisms of genes MSX1 and PAX9 are positively associated with palatal impaction of maxillary canines. Future studies investigating various other SNPs of these genes in a larger sample of different populations could provide clinching details.

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Suggestive Associations Between Polymorphisms in PAX9, MSX1 Genes and Third Molar Agenesis in Humans

Cited by 4 publications

References 0 publications

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

Association between polymorphism in the promoter region (G/C-915) of PAX9 gene and third molar agenesis

Role of polymorphisms of MSX1 and PAX9 genes in palatal impaction of maxillary canines

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