Powerful Tests for Genomic Imprinting Effects for Qualitative and Quantitative Traits on the X Chromosome

Prof Wing Kam Fung (University of Hong Kong)

Alan Turing Building G.108,

Genomic imprinting is an epigenetic phenomenon that the expression of an allele copy depends on its parental origin. This mechanism has been found to play an important role in many diseases. Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on the X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this talk, the parental-asymmetry test on X the chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter. Then, we propose 1-XPAT to tackle parent-daughter pairs, each with one parent and his/her affected daughter. By simultaneously considering family trios and parent-daughter pairs, C-XPAT is constructed to test for imprinting. Further, we generalize the proposed methods to accommodate complete (with both parents) and incomplete (with one parent) nuclear families having multiple daughters of which at least one is affected. The proposed methods are extended to investigate quantitative trait loci having imprinting effects. Simulations are conducted to assess the performance of the proposed methods under different settings. Simulation results demonstrate that the proposed methods control the size well, irrespective of the inbreeding coefficient in females being zero or nonzero. For practical use, the proposed methods are applied to analyze the rheumatoid arthritis data.

Import this event to your Outlook calendar
▲ Up to the top