| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833547 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠We investigate maternal genetic variation and metabolism in congenital heart defects. ⺠Maternal SNPs and metabolites involved in folate metabolism were analyzed. ⺠Multiple associations were found between maternal SNPs and metabolites. ⺠Interactions between SNPs and metabolites were dependent on case-control status. ⺠Results underscore the importance of multifactorial studies to define CHD risk.
Keywords
TCN2MGMTCOMTBHMTGsta2GWAMTRRcatechol-O-methyltransferase geneMGSTWGAGPX3GstAMAT2ANBDPSMTHFSgsta4GlutamylcysteineCATFDRSNPsGSHSAMMAFCHDsROSS-adenosylmethionineGenome-wide associationwhole genome amplificationminor allele frequencyMetabolitesMethylenetetrahydrofolate reductaseFolate pathwayNational Birth Defects Prevention Studyfalse discovery rateCongenital heart defectspolymerase chain reactionPCRSingle nucleotide polymorphisms (SNPs)Single nucleotide polymorphismscatalase geneGlutathioneReactive oxygen species
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Authors
Shimul Chowdhury, Charlotte A. Hobbs, Stewart L. MacLeod, Mario A. Cleves, Stepan Melnyk, S. Jill James, Ping Hu, Stephen W. Erickson,