|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
CONCLUSION: Although MTHFR C677T and A1298C are significantly associated with some types of congenital defects and adverse pregnancy outcomes, the impact of these polymorphisms is moderate.
|
30474229 |
2019 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We evaluated five single-nucleotide polymorphisms (SNPs) in genes related to folic acid metabolism: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), solute carrier family 19, member 1 (SLC19A1 G80A), methionine synthase (MTR A2576G), and methionine synthase reductase (MTRR A66G), as risk factors for CTDs including various types of malformation, in a total of 193 mothers with CTD-affected offspring and 234 healthy controls in a Chinese population.
|
30165839 |
2018 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities.
|
28578513 |
2017 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (p < 0.05), mostly relating to the diseases of circulatory system, birth defects and cancers.
|
27888505 |
2017 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
C677T polymorphism of MTHFR gene was reported as risk factor for congenital defects, metabolic and neuropsychiatric disorders.
|
27025471 |
2016 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with complex congenital malformations.
|
18452180 |
2008 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects.
|
18435414 |
2008 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rate of MM was increased in offspring of mothers who were heterozygous or homozygous for 677C > T genotype amongst AED-exposed cases, but more so in those exposed to VPA.
|
17951123 |
2008 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects.
|
17510921 |
2007 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied whether two polymorphisms in the MTHFR gene (677C-->T and 1298A-->C) are associated with pregnancy complications, adverse outcomes, and birth defects.
|
15210385 |
2004 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MTHFR polymTHFR polymorphisms, especially the 677C-->T mutation, may contribute to vascular and birth defect risks, while reducing the risk of certain malignancies, such as colon cancer.
|
14633777 |
2003 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations.
|
11303187 |
2001 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, some authors demonstrated association of the C-->T mutation (C677T), converting an alanine to a valine residue in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with other congenital anomalies such as neural tube defects (NTDs).
|
11170082 |
2001 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A common novel mutation (C677T) in the methylenetetrahydrofolate reductase (MTHFR) gene is considered an associated risk factor for NTD and other malformations.
|
10607475 |
1999 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
CONCLUSION: Although MTHFR C677T and A1298C are significantly associated with some types of congenital defects and adverse pregnancy outcomes, the impact of these polymorphisms is moderate.
|
30474229 |
2019 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We evaluated five single-nucleotide polymorphisms (SNPs) in genes related to folic acid metabolism: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), solute carrier family 19, member 1 (SLC19A1 G80A), methionine synthase (MTR A2576G), and methionine synthase reductase (MTRR A66G), as risk factors for CTDs including various types of malformation, in a total of 193 mothers with CTD-affected offspring and 234 healthy controls in a Chinese population.
|
30165839 |
2018 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities.
|
28578513 |
2017 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions.
|
28398708 |
2017 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with decreased risk and an association of MTR A2756G with increased risk of CA.
|
22855024 |
2012 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with complex congenital malformations.
|
18452180 |
2008 |
|
rs397507444
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We studied whether two polymorphisms in the MTHFR gene (677C-->T and 1298A-->C) are associated with pregnancy complications, adverse outcomes, and birth defects.
|
15210385 |
2004 |
|
rs2236225
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis.
|
29659962 |
2018 |
|
rs2236225
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions.
|
28398708 |
2017 |
|
rs2236225
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects.
|
28559181 |
2017 |
|
rs121912678
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analyzed baseline whole body (minus skull) computed tomographic (CT) scans of 113 individuals with classic clinical features of FOP and the ACVR1 (R206H) mutation who were enrolled in a non-interventional natural history study ((NCT02322255)) for skeletal malformations, atypical morphology, intra-articular synovial osteochondromatosis, developmental arthropathy, and associated degenerative joint phenotypes.
|
31655222 |
2020 |