| Factor Information | |
|---|---|
| Data ID | 926 |
| Factor | FIGN +94762G>C(Genotype: CC) (rs2119289)--Shandong group |
| Description | Folate deficiency is an independent risk factor for congenital heart disease (CHD). Genome-wide surveys have identified variants of non-folate metabolic genes associated with the plasma folate level, suggesting that these genetic polymorphisms are potential risk factors for CHD. |
| Biomarker | NA |
| Classification | D1 (molecular factor - DNA) |
| Association | |
|---|---|
| Application | risk assessment |
| Objective | we investigated the molecular mechanism affected by the FIGN intronic variant +94762G>C which decreased plasma folate levels but showed strong protection against CHD. |
| p Value | 0.0012 |
| OR | 0.23 |
| Conclusion | In the Shandong group, the genotype distribution of only one SNP, FIGN +94762G>C (rs2119289) located within intron 4, was significantly different between CHD patients and healthy subjects. |
| Risk Factor | protective factor |
| CHD Type | |
|---|---|
| ID | 492 |
| CHD Type | isolated CHD |
| CHD Subtype | ASD/VSD/TOF/AVSD/TGA/DOLV/DORV |
| Reference | |
|---|---|
| PMID | 28302752 |
| Year | 2017 |
| Title | Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility. |
| Sample | ||
|---|---|---|
| Population | children | |
| Source | Blood and cardiovascular tissue samples | |
| Region | Shanghai,China | |
| Method | Single Nucleotide Polymorphism (SNP) | |
| Race | Asian | |
| Disease History | N/A | |
| Treatment History | N/A | |
| Group | cases(Treatment) | controls(Control) |
| Number | 13 | 43 |
| Age | 6.38 ± 0.26 years | 6.81 ± 0.14 years |
| Gender (Male: Female) | 287:277 | 312:298 |
| Marker Level | CC:13 (2.3%) | CC: 43 (7.0%) |
