|
rs4791331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case-control study, the rs4791331-T allele was associated with an increased risk of nonsyndromic orofacial cleft (OR = 1.41, 95% CI = 1.19-1.68), as well as the subgroups cleft lip only (OR = 1.46, 95% CI = 1.14-1.87) and cleft lip and palate (OR = 1.58, 95% CI = 1.27-1.96).
|
31780810 |
2020 |
|
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 |
|
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 |
|
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 |
|
rs2269529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO).
|
29207917 |
2018 |
|
rs4783099
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CRISPLD2 rs4783099 was associated with cleft lip and/or palate (CL/P) statistically (OR = 3.18, P < .01).
|
29437515 |
2018 |
|
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 |
|
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 |
|
rs2239907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the rs2239907 minor allele was associated with decreased case risk for cleft lip with cleft palate in several models, and with cleft palate only in a recessive model (OR: 0.41; [0.20-0.85]).
|
26789141 |
2016 |
|
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 |
|
rs739439
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Utah sample, the rs739439 minor allele was associated with decreased case risk for cleft lip with cleft palate (genotype relative risk (GRR): 0.56 [0.32-0.98]).
|
26789141 |
2016 |
|
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 |
|
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 |
|
rs572007403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin.
|
26199944 |
2015 |
|
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 |
|
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 |
|
rs3775261
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
rs3821949
|
|
|
0.010 |
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 |
|
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 |