Stochastic epigenetic variation in evolutionary adaptation and common disease

Rafael Irizarry
Department of Biostatistics, Johns Hopkins University

(March 1, 2010 2:30 PM - 3:30 PM)

Stochastic epigenetic variation in evolutionary adaptation and common disease

Abstract

I will start this talk describing my experience designing 1) a microarray, 2) an experiment and 3) data analysis techniques for finding regions with different methyalation levels among human tissues. I will also describe how this work led to a new definition CpG islands that we applied to 30 different. Finally, I will describe a new theory for a role of epigenetics in evolution that suggests that genetic variants that do not change mean phenotype could change the variability of phenotype; and this could be mediated epigenetically. This inherited stochastic variation model would provide a mechanism to explain an epigenetic role of developmental biology in selectable phenotypic variation, as well as the largely unexplained heritable genetic variation underlying common complex disease. I will show some experimental results as proof of principle and describe some of the statistical issues involved in the data analysis and simulations supporting the new theory.