|
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 |
|
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 |
|
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 |
|
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 |
|
rs1546124
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC, and Texas Hispanics; p = .03 for both comparisons) and with both cleft lip with cleft palate (CLP; p = .04) and CL(P) (p = .02) in North Americans.
|
20815724 |
2011 |
|
rs493760
|
|
|
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 |
|
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 |
|
rs1487309678
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs397515445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs1269636220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs1306416169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs3771523
|
|
|
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 |
|
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 |
|
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 |
|
rs17563
|
|
|
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 |
|
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 |
|
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 |
|
rs397507444
|
|
|
0.010 |
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 |
|
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 |
|
rs11362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant rs11362 in DEFB 1 influences caries susceptibility in CL/P children.
|
23964634 |
2014 |
|
rs7650466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs7650466 T allele was associated with the incidence of NSCL/P (OR, 0.211; 95% CI, 0.131-0.338; adjusted p = 4.881 × 10<sup>-10</sup>) and cleft lip with or without palate (CL/P) (OR, 0.176; 95% CI, 0.104-0.297; adjusted p = 3.617 × 10<sup>-10</sup>), as well as with protective and dominant effects in both conditions.
|
29932736 |
2018 |
|
rs7043516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Taken together, this study showed that rs7043516 may be considered as a potentially susceptible marker of cleft lip only among Chinese Han populations.
|
26728781 |
2016 |
|
rs201002930
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analysis showed that WNT10a rs201002930 (c.392 C>T) significantly decreased the risk of cleft lip with cleft palate and cleft palate only.
|
29356097 |
2018 |
|
rs560426
|
|
|
0.710 |
GeneticVariation |
GWASDB |
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 |
|
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 |