Title
LIME: A Likelihood Approach for Detecting Imprinting and Maternal Effects Using General Pedigrees from Prospective Association Studies
Speaker
Jingyuan Yang, The Ohio State University
Abstract
Association studies aim at identifying variant genes that may play a role in certain diseases. Sometimes, the parental origin of the variant genes carried by a child and whether his or her mother carries that variant gene could also influence the disease risk of the child, which are referred to as "genomic imprinting effect" and "maternal effect", respectively. These two effects are involved in many complex human diseases, but have long been neglected in association studies. Although a few methods have become available for incorporating these two effects, these methods are restricted to retrospective family-based design and they could only deal with nuclear families. In this talk, a likelihood approach for detection of imprinting and maternal effects (LIME) proposed in my dissertation will be introduced. LIME models the disease risk using both affected and unaffected children recruited in prospective studies through a logit link, and is able to accommodate general pedigrees with two or more generations and missing genotypes. In contrast with currently available methods, LIME does not require discarding unaffected subjects or trimming down the pedigrees to nuclear families, and thus fully utilizes the information collected in prospective studies. We have simulated various situations of imprinting and maternal effects involved in a disease, and demonstrated that LIME can achieve higher detection power than the existing methods. LIME has also been applied to the Framingham Heart Study data, and successfully detected several single nucleotide polymorphisms (SNPs), which may influence the susceptibility of human adults to high blood pressure through imprinting and/or maternal effects. An extension of LIME to case-parent/control-parent triads design will be introduced briefly as well if time permits.
*Due to other commitments, the other recipient of this year's Whitney Award, Emily Kang, will be unable to present her research in this seminar.
