Date of Award
Doctor of Philosophy
Wilfried JJ Karmaus
Epigenetics is the study of heritable changes in genes which are caused by chemical compounds derived from natural and man-made sources. DNA methylation an epigenetic phenomenon, is most vulnerable to environmental factors during embryogenesis, which is a period of rapid cell division and epigenetic remodeling. Given the recent increase in the incidence of childhood diseases, it is crucial to understand the role of environmental factor through epigenetic study in causing adverse health effects. This dissertation revolves around three major hypotheses. In hypothesis one we evaluated the association between in utero arsenic exposure and genome-wide DNA methylation in cord blood from the birth cohort data of Taiwan. The identified CpG sites were replicated in an independent birth cohort (New Hampshire birth cohort study; NHBCS) and further assessed longitudinal associations of DNA methylation with disease biomarkers measured at later ages in our cohort from Taiwan. In second hypotheses we assessed the association between Immunoglobulin E (IgE) production and DNA methylation at birth via cord blood in a longitudinal study. The study was conducted from the birth cohort data of Taiwan and the findings were replicated in an independent birth cohort (Isle of Wight; IoW), and further the stability of identified CpG sites was assessed based on intra-class (ICC) correlation measure. In the third hypotheses we assessed the confounding effect in epigenome wide association study due to underlying cell composition and evaluated several methods and algorithms proposed to adjust for this confounding effect.
dissertation or thesis originally submitted to the local University of Memphis Electronic Theses & dissertation (ETD) Repository.
Kaushal, Akhilesh, "Epigenetic Marker Identification and Assessment of Methods on Cell Type Compositions at the Epigenome-Scale" (2017). Electronic Theses and Dissertations. 1709.