Laura Mitchell, Ph.D., is an Associate Professor in the Center for Environmental and Genetic Medicine of the Institute of Biosciences and Technology, Texas A&M University System Health Science Center in Houston, Texas. Her research interests include genetic epidemiology of birth defects, and methods for evaluating the genetic contribution to complex human diseases.
Epidemiology of neural tube defects
Article first published online: 30 MAR 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Neural Tube Defects
Volume 135C, Issue 1, pages 88–94, 15 May 2005
How to Cite
Mitchell, L. E. (2005), Epidemiology of neural tube defects. Am. J. Med. Genet., 135C: 88–94. doi: 10.1002/ajmg.c.30057
- Issue published online: 18 APR 2005
- Article first published online: 30 MAR 2005
- National Institutes of Health. Grant Numbers: HD39195, HD39081, ES11658
- neural tube;
- spina bifida
The epidemiological investigation of the common open neural tube defects (NTDs), anencephaly, and spina bifida, has a long history. The most significant finding from these past studies of NTDs was the identification of the protective effect of maternal, periconceptional supplementation with folic acid. Fortuitously, the association between folic acid and NTDs became widely accepted in the early 1990s, at a time when genetic association studies of complex traits were becoming increasingly feasible. The confluence of these events has had a major impact on the direction of epidemiological, NTD research. Association studies to evaluate genes that may influence the risk of NTDs through their role in folate-related processes, or through other metabolic or developmental pathways are now commonplace. Moreover, the study of genetic as well as non-genetic, factors that may influence NTD risk through effects on the nutrient status of the mother or embryo has emerged as a major research focus. Research efforts over the past decade indicate that gene–gene, gene–environment, and higher-order interactions, as well as maternal genetic effects influence NTD risk, highlighting the complexity of the factors that underlie these conditions. The challenge for the future is to design studies that address these complexities, and are adequately powered to detect the factors or combination of factors that influence the development of NTDs. © 2005 Wiley-Liss, Inc.