|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China.
|
16470725 |
2006 |
|
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 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Folate deficiency and the presence of the 677C > T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene have been implicated in the causation of malformations in the fetus (particularly cleft lip and palate and neural tube defects).
|
17951123 |
2008 |
|
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 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
|
18452350 |
2008 |
|
rs1217691063
|
|
|
0.050 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate transmembrane 1-like gene (CLPTM1L), have been implicated in susceptibility to lung cancer through genome-wide association studies (GWAS); however, subsequent replication studies yielded controversial results.
|
23653681 |
2013 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Maternal C677T MTHFR polymorphism and environmental factors are associated with cleft lip and palate in a Mexican population.
|
23787444 |
2013 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recently, one genome-wide association study (GWAS), conducted exclusively among women of European ancestry, has discovered that cleft lip and palate transmembrane 1-like telomerase reverse transcriptase (CLPTM1L-TERT) rs401681 polymorphism was significantly associated with pancreatic cancer risk.
|
24577890 |
2014 |