Skip Navigation



American Journal of Epidemiology Advance Access published online on August 10, 2005
American Journal of Epidemiology, doi:10.1093/aje/kwi249
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
162/7/676    most recent
kwi249v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Mitchell, L. E.
Right arrow Articles by Weinberg, C. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mitchell, L. E.
Right arrow Articles by Weinberg, C. R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

American Journal of Epidemiology Copyright © 2005 by the Johns Hopkins Bloomberg School of Public Health All rights reserved
Received December 22, 2004
Accepted April 28, 2005

Article

Evaluation of Offspring and Maternal Genetic Effects on Disease Risk Using a Family-based Approach: The "Pent" Design

Laura E. Mitchell 1* and Clarice R. Weinberg 2

1 Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Sciences Center, Houston, TX
2 National Institute of Environmental Health Sciences, Research Triangle Park, NC

* To whom correspondence should be addressed.
Laura E. Mitchell, E-mail: lmitchell{at}ibt.tamhsc.edu


  Abstract

Diseases that develop during gestation may be influenced by the genotype of the mother and the inherited genotype of the embryo/fetus. However, given the correlation between maternal and offspring genotypes, differentiating between inherited and maternal genetic effects is not straightforward. The two-step transmission disequilibrium test was the first, family-based test proposed for the purpose of differentiating between maternal and offspring genetic effects. However, this approach, which requires data from "pents" comprising an affected child, mother, father, and maternal grandparents, provides biased tests for maternal genetic effects when the offspring genotype is associated with disease. An alternative approach based on transmissions from grandparents provides unbiased tests for maternal and offspring genetic effects but requires genotype information for paternal grandparents in addition to pents. The authors have developed two additional, pent-based approaches for the evaluation of maternal and offspring genetic effects. One approach requires the assumption of genetic mating type symmetry (pent-1), whereas the other does not (pent-2). Simulation studies demonstrate that both of these approaches provide valid estimation and testing for offspring and maternal genotypic effects. In addition, the power of the pent-1 approach is comparable with that of the approach based on data using all four grandparents.

Keywords: alleles; epidemiologic methods; genotype; linkage disequilibrium; linkage (genetics); models, genetic; models, statistical.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Circ Cardiovasc GenetHome page
E. Goldmuntz, S. Woyciechowski, D. Renstrom, P. J. Lupo, and L. E. Mitchell
Variants of Folate Metabolism Genes and the Risk of Conotruncal Cardiac Defects
Circ Cardiovasc Genet, December 1, 2008; 1(2): 126 - 132.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.