Detecting gene–environment interactions in human birth defects: Study designs and statistical methods. Issue 8 (23rd May 2015)

• Record Type: Journal Article
• Authors: Tai, Caroline G.; Graff, Rebecca E.; Liu, Jinghua; Passarelli, Michael N.; Mefford, Joel A.; Shaw, Gary M.; Hoffmann, Thomas J.; Witte, John S.
• Is Part Of: Birth defects research. Volume 103:Issue 8(2015)
• Page Start: 692
• Page End: 702
• Publication Date: 2015-05-23
• Subjects: gene–environment interaction -- genetic epidemiology -- birth defects -- family‐based study -- neural tube defects -- congenital heart defects -- National Birth Defects Prevention Study -- case‐only -- transmission disequilibrium test; Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23382
• Languages: English
• ISSNs: 1542-0752

Abstract

Abstract : Background: The National Birth Defects Prevention Study (NBDPS) contains a wealth of information on affected and unaffected family triads, and thus provides numerous opportunities to study gene–environment interactions (G×E) in the etiology of birth defect outcomes. Depending on the research objective, several analytic options exist to estimate G×E effects that use varying combinations of individuals drawn from available triads. Methods: In this study, we discuss important considerations in the collection of genetic data and environmental exposures. Results: We will also present several population‐ and family‐based approaches that can be applied to data from the NBDPS including case–control, case‐only, family‐based trio, and maternal versus fetal effects. For each, we describe the data requirements, applicable statistical methods, advantages, and disadvantages. Conclusion: A range of approaches can be used to evaluate potentially important G×E effects in the NBDPS. Investigators should be aware of the limitations inherent to each approach when choosing a study design and interpreting results. Birth Defects Research (Part A) 103:692–702, 2015. © 2015 Wiley Periodicals, Inc.