|
rs147680216
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The WNT10A p.G213S mutation was confirmed to be the etiological cause of tooth agenesis and ectodermal dysplasia as previously described.
|
28944914 |
2017 |
|
rs147680216
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
For rs116998555, the presence of the T allele (the thymine variant) was associated with tooth agenesis [odds ratio (OR) = 5.722; 95% confidence interval (CI) = 3.053-10.727; P < 0.001], while for rs147680216, the A allele (the adenine variant) correlated with this condition (OR = 2.665; 95%CI = 1.512-4.695; P < 0.001).
|
27050986 |
2016 |
|
rs17563
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
This case-control study was designed to evaluate the association of the polymorphism rs17563 in BMP4 gene with susceptibility of isolated human tooth agenesis in a Chinese Han population.
|
26166641 |
2015 |
|
rs17563
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with isolated human tooth agenesis.
|
22191848 |
2012 |
|
rs4904210
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A case-control study was performed on 50 subjects with sporadic tooth agenesis (cases) and 100 healthy controls, which genotyped a PAX9 gene polymorphism (rs4904210).
|
23857653 |
2013 |
|
rs4904210
|
|
Agenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Aggregating the available data, there does not seem to exist a clear association between the alanine 240 for proline variant in the PAX9 gene and the MLIA phenotype.
|
20660504 |
2010 |
|
rs104894469
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In PAX9, a novel, heterozygous G151A transition in the sequence encoding the paired domain of the PAX9 protein was detected in a patient with agenesis of third molars, second premolars and incisors, but not in her parents, the remaining patients or 162 individuals with normal dentition.
|
12786960 |
2003 |
|
rs104894562
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant double-negative αβ T-cells (CD4negCD8neg, DN) and regulatory-like T-cells.
|
22590644 |
2012 |
|
rs1095
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
MSX1 rs1095 derived allele occurred in individuals with agenesis only, and two other mutations in this gene had been earlier associated with tooth agenesis.
|
21111400 |
2011 |
|
rs11001553
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
These data demonstrated an association between rs11001553 of DKK1, a tooth development-associated gene, and non-syndromic tooth agenesis in Chinese Han individuals.
|
24737523 |
2014 |
|
rs114632254
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Prioritization of variants "by function" allowed the identification of multiple variants contributing to the trait, including two concomitant heterozygous variants in EDARADD (c.308C>T, p.Ser103Phe) and COL5A1 (c.1588G>A, p.Gly530Ser), specifically associated with a more severe phenotype (i.e. canine agenesis).
|
29705498 |
2018 |
|
rs116998555
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
For rs116998555, the presence of the T allele (the thymine variant) was associated with tooth agenesis [odds ratio (OR) = 5.722; 95% confidence interval (CI) = 3.053-10.727; P < 0.001], while for rs147680216, the A allele (the adenine variant) correlated with this condition (OR = 2.665; 95%CI = 1.512-4.695; P < 0.001).
|
27050986 |
2016 |
|
rs11806449
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs11806449 did not correlate either with the overall TA phenotype or hypodontia/oligodontia phenotypes.
|
28992378 |
2018 |
|
rs121908119
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report a nonsense heterozygous mutation in exon 2 of WNT10A c.321C>A[p.Cys107*] likely to be responsible for the severe tooth agenesis identified in this family through the creation of a premature stop codon, resulting in truncation of the amino acid sequence and therefore loss of protein function.
|
29927056 |
2018 |
|
rs121908120
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP databases for Caucasian populations.
|
24700731 |
2014 |
|
rs121908568
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
|
rs1219648
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
There were associations between AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic allele of FGFR2 (rs1219648) presented higher risk for having premolar agenesis (p = 0.02; OR = 1.8; 95% C.I., 1.1-3.0)].
|
23169889 |
2013 |
|
rs12532
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted.
|
31568994 |
2020 |
|
rs1292564852
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis.
|
30417976 |
2019 |
|
rs1315861554
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.
|
11810641 |
2002 |
|
rs140920120
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report the detection of a substitution mutation, A42P, within the prodomain of bone morphogenetic protein 4 (BMP4) in a small family with tooth agenesis and describe a functional alteration that may be responsible for the tooth phenotype.
|
23841782 |
2013 |
|
rs1444216093
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis.
|
30417976 |
2019 |
|
rs15705
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Taken together, our findings indicate that rs15705 and rs317250 are associated with the susceptibility of non-syndromic tooth agenesis by possibly affecting miRNAs and mRNA interaction.
|
27362534 |
2016 |
|
rs17015215
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P = 0.058; rs17015215-V274I, P = 0.0006; rs7802, P = 0.004).
|
17318851 |
2007 |
|
rs17576
|
|
Agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We investigated the association between polymorphisms in the MMP2 (rs243865), MMP9 (rs17576), and MMP13 (rs2252070) genes with tooth agenesis in humans.
|
24351915 |
2013 |