Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

ABSTRACT: Understanding how genetic variation affects distinct cellular phenotypes, such as gene expression levels, alternative splicing and DNA methylation levels, is essential for better understanding of complex diseases and traits. Furthermore, how inter-individual variation of DNA methylation is associated to gene expression is just starting to be studied. In this study, we use the GenCord cohort of 204 newborn Europeans' lymphoblastoid cell lines, T-cells and fibroblasts derived from umbilical cords. The samples were previously genotyped for 2.5 million SNPs, mRNA-sequenced, and assayed for methylation levels in 482,421 CpG sites. We observe that methylation sites associated to expression levels are enriched in enhancers, gene bodies and CpG island shores. We show that while the correlation bet

SUBMITTER: Gutierrez-Arcelus M 

PROVIDER: S-EPMC4310612 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature