|
rs4816
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida.
|
16256389 |
2006 |
|
rs3733890
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study indicated that individuals homozygous for the single nucleotide polymorphism R239Q in BHMT did not have elevated risks for spina bifida.
|
15887275 |
2005 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Had these analyses been restricted to the methodologically simpler TDT, the association between the NOS3 G894T genotype and risk of spina bifida may well have been overlooked.
|
15039923 |
2004 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida.
|
12707953 |
2003 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Homozygosity for the A1298C mutation was seen at a higher rate only in Hispanic mothers of both upper and lower level SB cases when compared to controls, but these results were not statistically significant.
|
11074490 |
2000 |
|
rs1369410594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified three rare (MAF <0.001) missense heterozygous PTK7 variants (NM_001270398.1:c.581C>T, p.Arg630Ser and p.Tyr725Phe) in the spina bifida patients.
|
30689296 |
2019 |
|
rs2486668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Consistently, in the case-parent triad/control study, GG genotype on rs2486668</span> was associated with increased risk for spina bifida, with a RR of 2.15 (95% CI: 1.20-3.83).
|
31332962 |
2019 |
|
rs11591147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R46L variant was also associated with an increased risk of spina bifida (OR 5.90, p = 2.7 × 10<sup>-4</sup>), suggesting that further investigation of potential connections between inhibition of PCSK9 and neural tube defects may be warranted.
|
29185237 |
2018 |
|
rs2236225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01).
|
26394717 |
2016 |
|
rs2797840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, the minor allele G of rs2797840 was significantly associated with NTDs risk in spina bifida subgroup (p value = 0.0348).
|
27001897 |
2016 |
|
rs780094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AA genotype in maternal GCKR rs780094 is associated with an increased risk for NTDs and spina bifida in the Chinese population.
|
25369983 |
2015 |
|
rs3783903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggested that the maternal rs3783903 of ITPK1 might be associated with spina bifida, and the allele G of rs3783903 might affect the binding of AP-1 and the decrease of maternal plasma IP6 concentration in this Chinese population.
|
24465924 |
2014 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygotes for rs4680 were associated with a decreased risk of spina bifida (OR = 0.71, 95% CI, 0.51-0.98).
|
24382678 |
2014 |
|
rs10135525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The exons of NKX2-8 were sequenced in human patients with spina bifida and rare variants (rs61755040 and rs10135525) were found to be significantly over-represented (p=0.036).
|
23874236 |
2013 |
|
rs1036980234
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729™2350G>A in female patients when compared to the normal control group.
|
23761049 |
2013 |
|
rs357564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729™2350G>A in female patients when compared to the normal control group.
|
23761049 |
2013 |
|
rs375752214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in risk for spina bifida, and interactions between that single nucleotide polymorphism (SNP) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have also been observed.
|
24323870 |
2013 |
|
rs61755040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The exons of NKX2-8 were sequenced in human patients with spina bifida and rare variants (rs61755040 and rs10135525) were found to be significantly over-represented (p=0.036).
|
23874236 |
2013 |
|
rs746937239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in risk for spina bifida, and interactions between that single nucleotide polymorphism (SNP) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have also been observed.
|
24323870 |
2013 |
|
rs202676
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele.
|
22124883 |
2012 |
|
rs4552
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population.
|
22647835 |
2012 |
|
rs1137100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations.
|
21204206 |
2011 |
|
rs1805134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spina bifida was associated with over-transmission of the LEPR (leptin receptor) rs1805134 minor C allele [genotype relative risk (GRR): 1.5; 95% confidence interval (CI): 1.0-2.1; P = 0.0264] and the COMT (catechol-O-methyltransferase) rs737865 major T allele (GRR: 1.4; 95% CI: 1.1-2.0; P = 0.0206).
|
21204206 |
2011 |
|
rs737865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spina bifida was associated with over-transmission of the LEPR (leptin receptor) rs1805134 minor C allele [genotype relative risk (GRR): 1.5; 95% confidence interval (CI): 1.0-2.1; P = 0.0264] and the COMT (catechol-O-methyltransferase) rs737865 major T allele (GRR: 1.4; 95% CI: 1.1-2.0; P = 0.0206).
|
21204206 |
2011 |
|
rs749437638
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations.
|
21204206 |
2011 |