|
rs12543318
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Homozygote C/C at rs12543318 was risk factor for non-syndromic cleft lip only from Western Han Chinese population.
|
29683526 |
2018 |
|
rs13041247
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth.
|
31233659 |
2019 |
|
rs2235371
|
|
|
0.740 |
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 |
|
rs2235371
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We carried out transmission-disequilibrium testing for V274I in 8003 individual subjects in 1968 families derived from 10 populations with ancestry in Asia, Europe, and South America, haplotype and linkage analyses, and case-control analyses, and determined the risk of cleft lip or palate that is associated with genetic variation in IRF6.
|
15317890 |
2004 |
|
rs2235371
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population.
|
19115793 |
2009 |
|
rs2235371
|
|
|
0.740 |
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 |
|
rs4791774
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth.
|
31233659 |
2019 |
|
rs560426
|
|
|
0.710 |
GeneticVariation |
BEFREE |
SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
|
20436469 |
2010 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population.
|
23725631 |
2013 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This integrated analysis supports the previous finding of differences in DNA methylation across the two sides of cleft lip and further suggests a possible role of MTHFR c.677C>T genotype in establishing this difference.
|
31161688 |
2019 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip.
|
9843036 |
1998 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The pooled results revealed no statistical association between infant and maternal C677T and A1298C variants and risk of cleft lip with or without palate (CL/P) or cleft palate only (CPO), except for the maternal 677TT genotype for CL/P, the OR was 1.32 (95% confidence interval [CI], 1.06-1.63) as compared to the normal 677CC genotype.
|
22450905 |
2012 |
|
rs642961
|
|
|
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 |
|
rs642961
|
|
|
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 |
|
rs642961
|
|
|
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 |
|
rs12532
|
|
|
0.020 |
GeneticVariation |
BEFREE |
No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis.
|
21689018 |
2011 |
|
rs12532
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although MSX1 rs3775261 polymorphism was not a risk factor for the disease, the rs12532 AG and rs12532 GG genotypes were associated with NS-CL/P risk (OR = 2.82, 95% CI = 1.55-5.15, P = .001; and OR = 8.42, 95% CI = 2.26-31.29, P = .004, respectively).
|
23231047 |
2013 |
|
rs16260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
When all cleft cases were subsequently stratified into four groups (i.e. cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (CPO) groups were significantly different with those in the controls (P=0.004) and rs16260 AA genotype significantly increased the risk of CPO by 5.90-fold (OR=6.90, 95% CI=1.47-32.40), providing the first evidence of CDH1 genetic variation in the etiology of CPO.
|
20880515 |
2011 |
|
rs16260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Results : There was a significant difference between NS-CL/P subjects and control subjects regarding CDH1 rs16260 C > A polymorphism, and the rs16260 AC as well as the rs16260 AA genotypes were associated with NS-CL/P susceptibility (odds ratio [OR] = 3.02, 95% confidence interval [CI] =1.51-6.00, P = .001; and OR = 8.05, 95% CI = 1.72-37.75, P = .002, respectively).
|
23231047 |
2013 |
|
rs2235375
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found.
|
25489771 |
2015 |
|
rs2235375
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate.
|
28712851 |
2018 |
|
rs10130587
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.
|
29860186 |
2018 |
|
rs10719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs were associated with the susceptibility of CL/P: rs10719 in DROSHA led to an increased risk of cleft lip with or without palate (CL/P) (GA/AA: p = .024, OR = 1.33, 95% CI = [1.04, 1.70]; GG + GA/AA: p = .037, OR = 1.29, 95% CI = [1.02, 1.63]), while rs493760 in DROSHA (CC/TT: p = .049, OR = 0.58, 95% CI = [0.34, 0.99]) could reduce the risk of CL/P.
|
28833944 |
2018 |
|
rs11362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant rs11362 in DEFB 1 influences caries susceptibility in CL/P children.
|
23964634 |
2014 |
|
rs11466285
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the association between the TGFA:c.3851T > C (rs11466285) and TGFA:c.3822G > A (rs3771523) single-nucleotide polymorphisms (SNPs) and nonsyndromic cleft lip and/or cleft palate (CL/P) with microarray in north China.
|
23742131 |
2014 |