Title : Maternal EPHX1 polymorphisms and risk of phenytoin-induced congenital malformations.

Pub. Date : 2010 Jan

PMID : 19952982






4 Functional Relationships(s)
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1 Maternal EPHX1 polymorphisms and risk of phenytoin-induced congenital malformations. Phenytoin epoxide hydrolase 1 Homo sapiens
2 The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child. Phenytoin epoxide hydrolase 1 Homo sapiens
3 In a logistic regression model adjusted for history of phenytoin use during the first trimester and maternal epilepsy (N=157 pregnancies), the maternal EPHX1 113 H [per rare allele odds ratio (OR): 2.43, 95% confidence interval (CI): 1.16-5.10, P=0.02] and 139 R (per rare allele OR: 2.33, 95% CI: 1.09-5.00, P=0.03) alleles were associated with CFAs in the child. Phenytoin epoxide hydrolase 1 Homo sapiens
4 CONCLUSION: Maternal EPHX1 genotype may be associated with risk of fetal anomalies among pregnant women taking phenytoin. Phenytoin epoxide hydrolase 1 Homo sapiens