| Factor Information | |
|---|---|
| Data ID | 425 |
| Factor | MTHFR(C677T)TT/(A1298C)AA |
| Description | The combined genotype analysis of the above two SNPs showed that: compared with the CC/AA genotype，individuals with TT/AA had a higher 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 and the risk of congenital heart disease( CHD). |
| p Value | <0.001 |
| OR | 7.05 |
| Conclusion | The combined genotype analysis of the above two SNPs showed that: compared with the CC/AA genotype，individuals with TT/AA had a higher risk of CHD. These two SNPs may have a joint effect on the occurrence of 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 | CC/AA:12(frequency:6%);TT/AA:91(frequency:45.5%) | CC/AA:40(frequency:20%);TT/AA:43(frequency:21.5%) |
