|
rs147680216
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs4904210
|
|
|
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 |
|
rs17563
|
|
|
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
|
|
|
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 |
|
rs12532
|
|
|
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
|
|
|
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 |
|
rs1444216093
|
|
|
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 |
|
rs2240308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.
|
31781599 |
2019 |
|
rs758420403
|
|
|
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 |
|
rs777307167
|
|
|
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 |
|
rs8049367
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in the subgroup analysis by tooth position, rs8049367 was nominally associated with mandibular premolar agenesis (Dominant model: OR<sub>dom</sub> = 0.66, 95% CI<sub>dom</sub> = 0.47-0.93, p<sub>dom</sub> = 0.016; Heterozygote model: OR<sub>het</sub> = 0.60, 95% CI<sub>het</sub> = 0.41-0.88, P<sub>het</sub> = 0.008).
|
30578605 |
2019 |
|
rs8670
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The variant genotype of the MSX1 rs8670 SNP was the most frequent in frontal agenesis; meanwhile in the lateral agenesis NSH group, the AXIN2 rs2240308 SNP showed a higher frequency of the variant genotype, with a trend towards statistical significance.
|
31781599 |
2019 |
|
rs114632254
|
|
|
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 |
|
rs11806449
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11806449 did not correlate either with the overall TA phenotype or hypodontia/oligodontia phenotypes.
|
28992378 |
2018 |
|
rs121908119
|
|
|
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 |
|
rs61735045
|
|
|
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 |
|
rs28933970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.
|
29023497 |
2017 |
|
rs116998555
|
|
|
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 |
|
rs121908568
|
|
|
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 |
|
rs15705
|
|
|
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 |
|
rs317250
|
|
|
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 |
|
rs3178250
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both SNPs showed an increased risk of mandibular incisor agenesis (rs15705, AA/AC vs. CC = 1.58, 95% CI = [1.06-2.34], P = 0.024; rs3178250, TT/TC vs. CC = 1.60, 95% CI = [1.08-2.37], P = 0.020).
|
27362534 |
2016 |
|
rs11001553
|
|
|
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 |