Investigation of Maternal Effects, Maternal-Foetal Interactions, and Parent-of-Origin Effects (Imprinting) Using Mothers and Their Offspring

• Activity Number: 16
• Type: Topic Contributed
• Date/Time: Sunday, August 1, 2010 : 2:00 PM to 3:50 PM
• Sponsor: Biometrics Section
• Author(s): Heather Jane Cordell*+
• Companies: Newcastle University
• Keywords: genetics ; imprinting ; case/parent trio ; mother ; father ; offspring

Abstract

A popular design for the investigation of complex genetic effects, including parent-of-origin (imprinting) effects, effects of maternal genotype and maternal-foetal interactions, is to collect DNA from affected offspring and their mothers. I describe a multinomial modelling approach that allows the estimation of complex genetic effects of this type using data from either case/mother duos or case/parent trios. Through the incorporation of additional assumptions (such as Hardy-Weinberg equilibrium, random mating and known allele frequencies) and/or the incorporation of additional control samples, I show that the parameters of interest are identifiable and well-estimated by our method. I investigate the required sample sizes and data structures necessary to provide accurate estimation of such effects and high power for their detection.