|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.
|
24990354 |
2015 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile.
|
22230335 |
2012 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero.
|
17439956 |
2007 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD.
|
8826441 |
1996 |
|
rs737865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There was a COMT rs737865</span> CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00-9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94-12.18).
|
24990354 |
2015 |
|
rs737865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After controlling for potential confounders, homozygotes of rs737865 showed an elevated risk for total NTDs (odds ratio [OR] = 2.04, 95% confidence interval [CI], 1.24-3.35) and for the anencephaly subtype (OR = 1.99, 95% CI, 1.17-3.39).
|
24382678 |
2014 |
|
rs1052536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The stratified analysis showed that TT genotype of rs1052536 increased the risk of anencephaly (P=0.016, OR=2.69, 95%CI [1.18-6.10]) and the T allele significantly increased the risk of cranial NTDs (P=0.033, OR=1.56, 95%CI [1.04-2.35]).
|
30022792 |
2018 |
|
rs773607884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C > A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family.
|
28087737 |
2017 |
|
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 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00-9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94-12.18).
|
24990354 |
2015 |
|
rs326119
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant increased risk of anencephaly was seen in MTRR variant rs326119 heterozygote (het) and homozygote (hom) individuals [odds ratios (OR)het = 1.81; ORhom = 2.05)].
|
26045171 |
2015 |
|
rs749437638
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.
|
24990354 |
2015 |
|
rs12132032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The gene polymorphism loci rs12132032 in PRKACB maybe a potential risk factor for anencephaly in Chinese population from Shanxi, while gender susceptibility may influence the correlation.
|
24294386 |
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 |