Factor Information
Data ID 938
Factor FIGN +94762G>C(allele: C) (rs2119289)--Combined
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 <0.0001
OR 0.61
Conclusion The combined data obtained from the entire analyzed population indicated that the +94762C allele was associated with a 39% decrease in the CHD risk (adjusted OR = 0.61, 95% CI = 0.54–0.69) 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 502 873
Age 5.24 ± 0.14 years 5.30 ± 0.09 years
Gender (Male: Female) 819:670 (total) 952:793(total)
Marker Level C: 502 (16.9%) C: 873 (25.0%)