| Factor Information | |
|---|---|
| Data ID | 419 |
| Factor | the mutant allete T of 5,10 methylenetetrahydrofolate reductase (MTHFR) C677T T |
| Description | Mutations in related single nucleotide polymorphisms( SNPs) can weaken the activity of corresponding enzymes by altering the structure of proteins, resulting in abnormal folate metabolism and increased homocysteine (Hcy) levels, further interfering with embryonic cardiovascular and neurological development. |
| Biomarker | NA |
| Classification | D1 (molecular factor - DNA) |
| Association | |
|---|---|
| Application | risk assessment |
| Objective | To investigate the association between single nucleotide polymorphisms( SNPs) of 5, 10-methylenetetrahydrofolate reductase( MTHFR) C677T, A1298C, methionine synthase( MS) A2756G, methionine synthase reductase( MTRR) A66G and the risk of congenital heart disease( CHD). |
| p Value | <0.001 |
| OR | 2.47 |
| Conclusion | The mutant allele T of MTHFR C677T may be a risk factor for CHD. Compared with the wild C genotype, The mutant allete T of MTHFR C677T had contribute to the risk of developing CHD. |
| Risk Factor | risk factor |
| CHD Type | |
|---|---|
| ID | 449 |
| CHD Type | isolated CHD |
| CHD Subtype | ASD/VSD/PDA/TOF/PVS |
| Reference | |
|---|---|
| PMID | 30081977 |
| Year | 2018 |
| Title | Case-control study on the association between four single nucleotide polymorphisms in folate metabolism way and the risk of congenital heart disease. |
| Sample | ||
|---|---|---|
| Population | children | |
| Source | Blood | |
| Region | Hebei,China | |
| Method | Sanger sequencing | |
| Race | Asian | |
| Disease History | N/A | |
| Treatment History | N/A | |
| Group | patients group(Treatment) | control group(Control) |
| Number | 200 | 200 |
| Age | 1. 5-13 years | 3. 5-7 years |
| Gender (Male: Female) | 98:102 | 101:99 |
| Marker Level | C:135(frequency: 33. 75%); T:265(frequency: 66. 25%) | C:223(frequency:55. 75%); T:177(frequency:44. 25%) |
