Factor Information
Data ID 923
Factor FIGN +94762G>C(allele: C) (rs2119289)--Shanghai 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 0.001
OR 0.61
Conclusion The minor C allele was associated with a reduced risk of CHD (per allele adjusted OR = 0.61, 95% CI = 0.46–0.81, P = 0.001), confirming that the FIGN +94762C allele indicated a decreased risk of CHD compared with the major G allele.
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 94 147
Age 5.08 ± 0.31 years 4.91 ± 0.22 years
Gender (Male: Female) 185:119 184:137
Marker Level C:94 (15.5%) C:147 (22.9%)