| Factor Information | |
|---|---|
| Data ID | 2340 |
| Factor | GGC repeat ≥13 |
| Description | The GGC repeat ≥13 was found in three out of six of children with aPH/CHD with normal PVR (<3 WUm2) vs. two out of 24 children with aPH/CHD with high PVR. The odd ratio between these two subgroups of aPH/CHD is 0.09 (95% CI 0.02–0.34). |
| Biomarker | NA |
| Classification | D1 (molecular factor - DNA) |
| Association | |
|---|---|
| Application | risk assessment |
| Objective | investigated the occurrence of BMPR2 mutation and genetic polymorphisms in children with pulmonary hypertension associated with congenital heart disease (aPH/CHD) and correlated with the pulmonary haemodynamic and vasoreactivity. |
| OR | 0.09 |
| Conclusion | Our data suggests the occurrence of GGC repeat ≥13 at the 5 UTR region may have some protective effect towards pulmonary vasculopathy in children who have been exposed to high pulmonary blood flow due to CHD. |
| Risk Factor | protective factor |
| CHD Type | |
|---|---|
| ID | 452 |
| CHD Type | NA |
| CHD Subtype | CHD with PAH |
| Reference | |
|---|---|
| PMID | 23098893 |
| Year | 2012 |
| Title | 5'UTR repeat polymorphisms of the BMPR2 gene in children with pulmonary hypertension associated with congenital heart disease. |
| Sample | ||
|---|---|---|
| Population | children | |
| Source | baseline haemodynamic data | |
| Region | Bangkok, Thailand | |
| Method | cardiac catheterisation, Haemodynamics, Acute Vasoreactivity Testing, Genetic Analysis | |
| Race | Asia | |
| Disease History | N/A | |
| Treatment History | cardiac catheterisation | |
| Group | children with aPH/CHD with high PVR(Treatment) | children with aPH/CHD with normal PVR(Control) |
| Number | 2 | 3 |
| Age | 94.2 ± 73.2 months | 55.6 ± 77.7 months |
| Gender (Male: Female) | N/A | N/A |
| Marker Level | 2/24 (8.3%) | 3/6 (50%) |
