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GSTM1 and GSTT1 null genotypes were identified by PCR amplification, and GSTP1 polymorphism was detected by RFLP analysis. An association was found between homozygosity for the GSTM1 null genotype and EA in affected children (p = 0.0022) and their http://www.selleckchem.com/products/r428.html mothers (p = 0.022). No association was found between GSTT1 and GSTP1 polymorphisms and EA children or their mothers. Results suggest that the GSTM1?/? null genotype may play an important role in the development of EA during early embryogenesis as a consequence of altered detoxification processes both in children and in the mothers. We hypothesize that GSTM1 allelic loss could be responsible for reduced or null catalytic activity in tissues exposed to amniotic fluid, and inefficient detoxification could be a trigger altering proliferation/apoptotic pattern of gut-trachea separation. Birth Defects Research (Part A), 2010. ? 2010 Wiley-Liss, Inc. ""We investigated the association between conotruncal heart defects (CTDs) and maternal and fetal single nucleotide polymorphisms (SNPs) in 60 genes in the folate, homocysteine, and transsulfuration pathways. We also investigated whether periconceptional maternal folic acid supplementation modified associations between CTDs and SNPs Participants were enrolled in the National http://www.selleck.cn/products/3-methyladenine.html Birth Defects Prevention Study between 1997 and 2008. DNA samples from 616 case-parental triads affected by CTDs and 1645 control-parental triads were genotyped using an Illumina? Golden Gate custom SNP panel. A hybrid design analysis, optimizing data from case and control trios, was used to identify maternal and fetal SNPs associated with CTDs Among 921 SNPs, 17 maternal and 17 fetal SNPs had a Bayesian false-discovery probability of http://www.selleckchem.com/products/PF-2341066.html Bayesian false-discovery probability (rs2612101, rs2847607, rs2847326, rs2847324) were found within the thymidylate synthetase (TYMS) gene. Additional analyses indicated that the risk of CTDs associated with candidate SNPs was modified by periconceptional folic acid supplementation. Nineteen maternal and nine fetal SNPs had a Bayesian false-discovery probability