Lower Circulating Folate Induced by a Fidgetin Intronic Variant is Associated with Reduced Congenital Heart Disease Susceptibility

• Published in: Circulation (New York, N.Y.) Vol. 135; no. 18; pp. 1733 - 1748
• Main Authors: Wang, Dan, Wang, Feng, Shi, Kai-Hu, Tao, Hui, Li, Yang, Zhao, Rui, Lu, Han, Duan, Wenyuan, Qiao, Bin, Zhao, Shi-Min, Wang, Hongyan, Zhao, Jian-Yuan
• Format: Journal Article
• Language: English
• Published: United States by the American College of Cardiology Foundation and the American Heart Association, Inc 02.05.2017
• Subjects: Adenosine Triphosphatases - genetics; Adenosine Triphosphatases - metabolism; Animals; Asian Continental Ancestry Group - genetics; ATPases Associated with Diverse Cellular Activities; Biomarkers - blood; Case-Control Studies; Chi-Square Distribution; Child, Preschool; China - epidemiology; Cyclic AMP Response Element-Binding Protein - genetics; Cyclic AMP Response Element-Binding Protein - metabolism; Down-Regulation; Female; Folic Acid - blood; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - ethnology; Heart Defects, Congenital - genetics; Heart Defects, Congenital - prevention & control; HEK293 Cells; Heterozygote; Homozygote; Humans; Introns; Logistic Models; Male; Membrane Transport Proteins - metabolism; Microtubule-Associated Proteins; Odds Ratio; Phenotype; Polymorphism, Single Nucleotide; Proteasome Endopeptidase Complex - metabolism; Protective Factors; Proteolysis; Rats; Risk Assessment; Risk Factors; RNA Interference; Tetrahydrofolate Dehydrogenase - metabolism; Transcription, Genetic; Transfection; folate utilization; proteasome; folate transmembrane transport; congenital heart diseases

BACKGROUND—Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of non-folate metabolic genes associated with the plasma folate level,...