|
Cleft lip or lips
|
|
0.030 |
GeneticVariation
|
BEFREE |
We observed association between rs642961 and cleft lip only (CLO) (P=0.009; odds ratio (OR) for AA genotype=1.83 [95% Confidence interval (CI), 0.64-5.31]; OR for AG genotype=1.72 [95% CI, 1.03-2.84]).
|
22887868 |
2012 |
|
Cleft upper lip
|
|
0.030 |
GeneticVariation
|
BEFREE |
We observed association between rs642961 and cleft lip only (CLO) (P=0.009; odds ratio (OR) for AA genotype=1.83 [95% Confidence interval (CI), 0.64-5.31]; OR for AG genotype=1.72 [95% CI, 1.03-2.84]).
|
22887868 |
2012 |
|
Cleft upper lip
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, to test whether rs642961 could modulate IRF6 expression in vivo, we surgically collected lip skin tissues within the adjacent region of lip cleft site and found rs642961 genotypes were associated with differential levels of IRF6 mRNA and protein expression in an allele-dosage manner, providing the first evidence that rs642961 affected IRF6 expression in vivo.
|
20799332 |
2010 |
|
Cleft upper lip
|
|
0.030 |
GeneticVariation
|
BEFREE |
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.
|
19780991 |
2010 |
|
Cleft lip or lips
|
|
0.030 |
GeneticVariation
|
BEFREE |
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.
|
19780991 |
2010 |
|
Cleft lip or lips
|
|
0.030 |
GeneticVariation
|
BEFREE |
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.
|
20799332 |
2010 |
|
Cleft palate, isolated
|
|
0.020 |
GeneticVariation
|
BEFREE |
Significant association was detected in the Swedish CP subset of our NSCL/P collection where the G-C haplotype for rs642961-rs2235371 were at risk (P = .013).
|
23394314 |
2014 |
|
Cleft Palate
|
|
0.020 |
GeneticVariation
|
BEFREE |
Significant association was detected in the Swedish CP subset of our NSCL/P collection where the G-C haplotype for rs642961-rs2235371 were at risk (P = .013).
|
23394314 |
2014 |
|
Uranostaphyloschisis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Significant association was detected in the Swedish CP subset of our NSCL/P collection where the G-C haplotype for rs642961-rs2235371 were at risk (P = .013).
|
23394314 |
2014 |
|
Cleft Lip with or without Cleft Palate
|
|
0.020 |
GeneticVariation
|
BEFREE |
Conclusion : Our results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population.
|
23509905 |
2013 |
|
Cleft palate, isolated
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.
|
20799332 |
2010 |
|
Cleft Lip with or without Cleft Palate
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.
|
20799332 |
2010 |
|
Cleft Palate
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.
|
20799332 |
2010 |
|
Uranostaphyloschisis
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.
|
20799332 |
2010 |
|
Lip and Oral Cavity Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This case-control study evaluated the association of SNPs in IRF6 (rs642961), WNT3A (rs708111), GSK3β (rs9879992), 8q24 (rs987525) and WNT11 (rs1533767), representing regions consistently identified as of susceptibility for oral clefts, with oral cancer (oral squamous cell carcinoma) and breast cancer.
|
30579133 |
2019 |
|
Malignant neoplasm of mouth
|
|
0.010 |
GeneticVariation
|
BEFREE |
This case-control study evaluated the association of SNPs in IRF6 (rs642961), WNT3A (rs708111), GSK3β (rs9879992), 8q24 (rs987525) and WNT11 (rs1533767), representing regions consistently identified as of susceptibility for oral clefts, with oral cancer (oral squamous cell carcinoma) and breast cancer.
|
30579133 |
2019 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
To breast cancer, the A allele of rs987525 was associated with increase risk in early stage (p = 0.02) and SNP-SNP interactions involving the 5 SNPs were significantly observed, with the most significant interaction among rs708111, rs1533767, rs9879992 and rs642961 (p<sub>1000permutation</sub><0.001).
|
30579133 |
2019 |
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To breast cancer, the A allele of rs987525 was associated with increase risk in early stage (p = 0.02) and SNP-SNP interactions involving the 5 SNPs were significantly observed, with the most significant interaction among rs708111, rs1533767, rs9879992 and rs642961 (p<sub>1000permutation</sub><0.001).
|
30579133 |
2019 |
|
Oral cleft
|
|
0.010 |
GeneticVariation
|
BEFREE |
The 8q24 region plays a role in CL/P and the IRF6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.
|
26714022 |
2016 |
|
Popliteal pterygium syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association analysis of the entire VWS/PPS sample set revealed the A allele from rs642961 to be a risk allele.
|
23394314 |
2014 |
|
Van der Woude syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association analysis of the entire VWS/PPS sample set revealed the A allele from rs642961 to be a risk allele.
|
23394314 |
2014 |
|
Cleft palate with cleft lip
|
|
0.010 |
GeneticVariation
|
BEFREE |
The goal of this study was to confirm the reported association between a noncoding SNP (rs642961) in IRF6 and nonsyndromic cleft lip and palate.
|
21039277 |
2010 |