| Factor Information | |
|---|---|
| Data ID | 422 |
| Factor | the mutant allete C of 5, 10 methylenetetrahydrofolate reductase (MTHFR) A1298C C |
| Description | Compared with the wild AA genotype，heterozygosity AC had a lower risk of CHD. |
| 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 | 0.53 |
| Conclusion | Compared with the wild A genotype, The mutant allele C of MTHFR A1298C was a protective factor for CHD |
| Risk Factor | protective 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 | A:351(frequency:87. 75%) C:49(frequency: 12. 25%) | frequency A:316(frequency: 79. 00%); C:84(frequency: 21. 00%) |
