Objectives:

Despite the widespread use of prescription and over-the-counter (OTC) medications in pregnancy, little is known about the possible effects on the fetus of the large majority of these agents. With the exception of a few medications, most associations with specific drugs reflect modest increases in risk, and for such these it is often difficult to rule out chance or other non-causal explanations. One likely explanation for some of these elevated risks involves pharmacogenetics. A variant of a drug-metabolizing enzyme, present in a fraction of the population, may be associated with a very high risk of a particular birth defect. However, this large risk may be diluted by the absence of an increased risk in the larger proportion of the population without the polymorphism.

In this study, we will identify mutations in genes that metabolize commonly used medications and will evaluate their possible roles in humans using data from the Pregnancy Health Invertiew Study (PHIS) / Birth Defects Study (BDS) and the National Center for Birth Defects Research and Prevention Study funded by the National Center for Environmental Health at the U.S. Centers for Disease Control and Prevention (CDC).  These studies collect both genetic material and detailed information on drug exposures in pregnancy.

Methods:

Results:

Investigators:

Allen A. Mitchell, M.D., Co-Principal Investigator
Slone Epidemiology Center

J. Steven Leeder, Pharm.D., Ph.D., Co-Principal Investigator
Marion Merrell Dow Chair of Pediatric Pharmacogenomics
Profesor of Pediatric and Pharmacology
Children's Mercy Hospital-Kansas City

Source of Funding:

National Institute of Environmental Health

Study Period:

2000-2005

Publications:

None to date