| Factor Information | |
|---|---|
| Data ID | 4230 |
| Factor | Maternal vitamin D receptor gene Fok1 alleles: f |
| Description | The f/f genotype (homozygote of the infrequent allele) showed two fragments at 196 bp and 69 bp. |
| Biomarker | NA |
| Classification | D1 (molecular factor - DNA) |
| Association | |
|---|---|
| Application | risk assessment |
| Objective | To access the association between maternal Fok1 polymorphism genotype and the offsrping of CHD. |
| Conclusion | There were significant increase in F/f (48%),f/f (12%) genotypes and f (36%) allele frequency distribution in maternal cases versus 26%, 2% and 15% respectively in controls with estimated OR (95%CI) & P value of 3 (1-8) &P=0.006, 11 (1-97) & P=0.01 and 3 (2-6) & P=0.001 respectively. |
| Risk Factor | unknown |
| CHD Type | |
|---|---|
| ID | 753 |
| CHD Type | isolated CHD |
| CHD Subtype | VSD/ASD/PDA/TGA/TOF/TAS/HLHS/DORV |
| Reference | |
|---|---|
| PMID | 31194013 |
| Year | 2018 |
| Title | Maternal vitamin D level and vitamin D receptor gene polymorphism as a risk factor for congenital heart diseases in offspring; An Egyptian case-control study |
| Sample | ||
|---|---|---|
| Population | neonates | |
| Source | Peripheral blood of patients | |
| Region | Zagazig, Egypt | |
| Method | ELISA, RFLP PCR assay | |
| Race | African | |
| Disease History | Previous CHD in sibilings with 20% of cases and 4% in controls | |
| Treatment History | NA | |
| Group | CHD neonates(Treatment) | healthy controls(Control) |
| Number | 36 | 15 |
| Age | 28(20-35) years | 28(20-35) years |
| Gender (Male: Female) | 0:36 | 0:15 |
| Marker Level | 0.36 | 0.15 |
