A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study

Tetrahydrobiopterin (BH4) is an essential cofactor and an important cellular antioxidant. BH4 deficiency has been associated with diseases whose etiologies stem from excessive oxidative stress. GTP cyclohydrolase I (GCH1) catalyzes the first and rate-limiting step of de novo BH4 synthesis. A 3-SNP h...

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Veröffentlicht in:	Molecular genetics and metabolism 2012-11, Vol.107 (3), p.592-595
Hauptverfasser:	Lupo, Philip J., Chapa, Claudia, Nousome, Darryl, Duhon, Cody, Canfield, Mark A., Shaw, Gary M., Finnell, Richard H., Zhu, Huiping
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult BH4 Biopterins - analogs & derivatives Biopterins - biosynthesis Biopterins - blood Biopterins - deficiency Child, Preschool Female GCH1 gene Gene Expression GTP Cyclohydrolase - genetics GTP Cyclohydrolase - metabolism GTP cyclohydrolase I Haplotype Haplotypes Humans Infant Infant, Newborn Male Neural tube defects Neural Tube Defects - blood Neural Tube Defects - epidemiology Neural Tube Defects - genetics Neural Tube Defects - prevention & control Odds Ratio Polymorphism, Single Nucleotide Risk Surveys and Questionnaires Tetrahydrobiopterin United States - epidemiology
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