Association between PAX-9 promoter polymorphisms and hypodontia in humans

Peres, Regina Célia Rocha; Scarel‐Caminaga, Raquel Mantuaneli; Santo, Alexandre Ribeiro do Espírito; Line, Sérgio Roberto Peres

doi:10.1016/j.archoralbio.2005.02.003

Cited by 44 publications

(51 citation statements)

References 27 publications

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“…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. Therefore, further studies are needed to investigate the relationship between PAX9-rs2073247 and MXLI 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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“…In addition, it has been shown that common polymorphisms in PAX9 are associated with 3rd molar (M3) agenesis. 24 The genetic origins of common dental variations, unlike those of dental anomalies, are poorly understood. While a common nonsynonymous variant in EDAR (Val370Ala) is associated with normal variation in dental traits, such as crown size, shoveling and double shoveling of incisors, 25,26 this EDAR polymorphism alone cannot account for the degree of heritability of such dental traits.…”

Section: Introductionmentioning

confidence: 99%

Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations

et al. 2012

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Studies on the heredity of dental characteristics in humans have indicated that the variance in many dental traits results from genetic variation. However, the genetic factors that influence commonly occurring dental variants are poorly understood. Paired domain box 9 (PAX9) codes a transcription factor that is important in tooth development. We investigated whether PAX9 polymorphisms are associated with normal variations in tooth agenesis and morphology. The study subjects were 273 Japanese and 223 Korean adults. Single-nucleotide polymorphisms (SNPs) in PAX9 (rs2295222, rs4904155, rs2073244, rs12881240 and rs4904210) were genotyped, and third molar agenesis and mesiodistal and buccolingual diameters were measured. We found that four of the five SNPs were significantly associated with the crown size. However, no SNP was associated with third molar agenesis. In additional analyses on non-metric dental traits, we found significant associations of PAX9 SNPs with shoveling of upper first incisors. In summary, common variants in PAX9 contributed to morphological variation in permanent teeth in humans.

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“…According to the inclusion criteria, 6 studies (Peres et al, 2005;Pawlowska et al, 2010;Pinho et al, 2010;Paixão-Côrtes et al, 2011;Liu et al, 2012;Wang et al, 2013) were included in the meta-analysis and 96 were excluded. The flow chart of study selection is shown in Figure 1.…”

Section: Characteristics Of Studies Includedmentioning

confidence: 99%

PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis

Zhang¹,

Qu²,

Zhang³

2014

Genet. Mol. Res.

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ABSTRACT.To evaluate the association between paired box 9 (PAX9) gene polymorphisms and tooth agenesis in isolated humans, we performed a comprehensive meta-analysis. We examined 6 casecontrol studies, with a total of 855 hypodontia cases and 1201 healthy controls. The G allele and G carrier (AG + GG) of A1031G were positively associated with hypodontia susceptibility. Similarly, the T allele and T carrier (CT + TT) of C912T and rs12881240 in the PAX9 gene also indicated an increased risk of hypodontia. In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia. The G allele and G carrier (AG + GG) of IVS2-41 in the PAX9 gene were not related factors. Interestingly, the genotype (AG + GG) of IVS2-54 in the PAX9 gene may be a protective factor for oligodontia (odds ratio = 0.21, 95% confidence interval = 0.07-0.63, P = 0.005). However, no significant differences were found in the allele frequency of IVS2-54 in the PAX9 polymorphism between controls and subjects with sporadic tooth agenesis. In conclusion, our meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases, of which 3 sites may be risk factors and 1 may have a protective role.

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Association between PAX-9 promoter polymorphisms and hypodontia in humans

Cited by 44 publications

References 27 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 of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations

PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis

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