|
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 |
|
rs3758249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.
|
26100861 |
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 |
|
rs4460498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.
|
26100861 |
2015 |
|
rs7850258
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A).
|
25652407 |
2015 |
|
rs2106416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 - 23.75%), compared with those without CLP (groups 3 and 4 - 8.23%).
|
25166767 |
2014 |
|
rs2236225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
|
25129243 |
2014 |
|
rs227731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphism rs227731 increased the risk of CLP when analyzed under a dominant model (OR = 1.732; 95% CI, 0.184-2.253; p = 0.0044).
|
22021054 |
2012 |
|
rs368136178
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a hemizygous missense c.452G>T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb.
|
21375406 |
2012 |
|
rs3923086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004).
|
22370446 |
2012 |
|
rs4752028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Under a recessive model, both rs7078160 and rs4752028 were associated with a greater than fourfold increase in the risk of CLP (odds ratio [OR] = 4.536; 95% confidence interval [CI], 1.678-12.265; p = 0.0012 and OR = 4.573; 95% CI, 1.817-11.512; p = 0.0004, respectively).
|
22021054 |
2012 |
|
rs522616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002).
|
22730240 |
2012 |
|
rs7078160
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Under a recessive model, both rs7078160 and rs4752028 were associated with a greater than fourfold increase in the risk of CLP (odds ratio [OR] = 4.536; 95% confidence interval [CI], 1.678-12.265; p = 0.0012 and OR = 4.573; 95% CI, 1.817-11.512; p = 0.0004, respectively).
|
22021054 |
2012 |
|
rs7224837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004).
|
22370446 |
2012 |
|
rs8179096
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002).
|
22730240 |
2012 |
|
rs2235371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in IRF6 (rs2235371 and rs64296) were genotyped in Hispanic and non-Hispanic white multiplex (122) and simplex (308) nonsyndromic cleft lip and palate families.
|
21039277 |
2010 |
|
rs306796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed family-based analyses and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P = 0.004) and in all multiplex families pooled together (P = 0.002).
|
20583170 |
2010 |
|
rs642961
|
|
|
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 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.
|
19447376 |
2009 |
|
rs7552506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively).
|
18209213 |
2008 |
|
rs861019
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively).
|
18209213 |
2008 |
|
rs121909635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs121909636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs267606805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs267606806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |