Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis

Callahan, Nicholas; Modesto, Adriana; Meira, Raquel; Seymen, Figen; Patır, Aslı; Vieira, Alexandre R.

doi:10.1016/j.archoralbio.2008.08.002

Cited by 69 publications

(54 citation statements)

References 18 publications

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“…Recent genetic studies have provided information about a number of genes related to tooth agenesis. Several genetic variations and mutations in AXIN2 (7), BMP4 (8), MMPs (MMP1 and MMP20) (9), PAX9 (10,11), MSX1 (10), TGFB3 (8), and WNT10A (12,13) have been associated with tooth developmental failure.…”

Section: Introductionmentioning

confidence: 99%

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

et al. 2013

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We investigated the association between polymorphisms in the MMP2 (rs243865), MMP9 (rs17576), and MMP13 (rs2252070) genes with tooth agenesis in humans. Two hundred eighty-five unrelated individuals (202 controls without tooth agenesis and 83 cases with tooth agenesis) were evaluated in a cross-sectional single-center study. The study participants were recruited through the Pediatric Dental Clinics of the Federal University of Rio de Janeiro, Brazil. Genotyping of the selected polymorphisms for MMPs was carried out by real-time PCR using the Taqman assay method from genomic DNA isolated from buccal epithelial cells of all the studied individuals. There was no significant association of MMP2 genotype or allele distribution with tooth agenesis or its absence. For MMP9, a significant difference in allele frequency was evident between the two groups (P = 0.05). With regard to the affected side, there was a significant difference between unilateral tooth agenesis and the control group in the distribution of MMP9 (P = 0.05). Also, there was a significant difference in MMP9 distribution between tooth agenesis in the maxilla and control individuals (P = 0.03). The genotype distribution of MMP13 differed significantly between the group with unilateral tooth agenesis and the controls (P = 0.01). Our findings provide evidence that MMP9 and MMP13 may be involved in tooth agenesis. (J Oral Sci 55, 281-286, 2013)

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Section: Introductionmentioning

confidence: 99%

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

et al. 2013

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“…Wnt signaling is essential for tooth development as indicated by transgenic mouse experiments (Mikkola and Millar, 2006). Mutations and polymorphisms in AXIN2, an intracellular antagonist of Wnt signaling, have been associated with tooth agenesis (Lammi et al, 2004;Mostowska et al, 2006;Callahan et al, 2009). WNT10A mutations have also been reported in patients with tooth agenesis (Kantaputra and Sripathomsawat, 2011).…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies of polymorphisms and tooth agenesis are rare, with most focusing on PAX9, MSX1 and AXIN2 (Mostowska et al, 2006;Bianch et al, 2007;Callahan et al, 2009;Silva et al, 2009). Furthermore, only two studies have focused on the Chinese population (Pan et al, 2008;Liu et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population

Hc¹,

Zhang²,

Wong³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and nonsyndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. In this study, we extended this investigation to 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females). These individuals were analyzed with 268 subjects (123 males and 145 females) diagnosed with nonsyndromic hypodontia and 190 healthy control subjects (99 males and 91 females). DNA was obtained from whole blood or saliva samples and genotyping was performed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Significant differences were observed in the allele and genotype frequencies of rs11001553 of DKK1. These data demonstrated an association between rs11001553 of DKK1, a tooth development-associated gene, and non-syndromic tooth agenesis in Chinese Han individuals. This information may provide further understanding of the molecular mechanisms of tooth agenesis. Furthermore, DKK1 can be regarded as a marker gene for the risk of tooth agenesis.

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“…The association of the gene to tooth agenesis was first found in a Finnish family with a predisposition for colorectal cancer [24]. It has been shown that the AXIN2 mutations may also be responsible for sporadic forms of incisor agenesis [76].…”

Section: Axin2 Genementioning

confidence: 99%

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Shahid¹,

Joshi²,

Alqhtani³

et al. 2018

Eur J Exp Bio

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Objectives: The main focus of this review article was to collate up to date knowledge with regard to significance of single nucleotide polymorphisms (SNPs) in various genes associated with tooth agenesis. Failure to develop complete set of teeth also called tooth agenesis is a common developmental abnormality manifested mainly as an isolated condition. This anomaly is also associated with many developmental syndromes. Methods:We reviewed the evidence from the literature with regard to SNPs in many genes associated with this developmental anomaly. The information contained in this review deals only with non-syndromic form of tooth agenesis. This condition generally affects third molars or one or few other permanent teeth, however, in some cases its severity is relatively prevalent. Results and Conclusions:Mutations in genes such as Msh homeobox 1 (MSX1), Paired box gene 9 (PAX9), Axis inhibitor protein 2 (AXIN2) and Ectodysplasin A (EDA) have been identified that are associated with the familial form of the disease. It has been shown that the phenotypes associated with these mutations indicate the involvement of more complex mechanisms.Clinical Significance: Evidence collected so far has immense clinical significance to clinical dentists in providing comprehensive guide outlining the role of these gene mutations (SNPs) in various genes and also how the patients affected with this condition will be clinically diagnosed and managed in future.

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Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis

Cited by 69 publications

References 18 publications

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

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