Department of Medical Sciences, Uppsala University
Lili Milani is a SciLifeLab fellow and associate senior lecturer in precision medicine at the Department of Medical Sciences, Uppsala University. She obtained a PhD degree in molecular medicine from Uppsala University in 2009, which was followed by a postdoctoral period and continued work as a senior scientist at the Estonian Genome Center, University of Tartu. Her main areas of research have been pharmacogenomics and epigenomics, particularly analysing genetic and epigenetic regulation of gene expression in different cell types and tissues.
Inappropriate activation or inadequate regulation of CD4+ and CD8+ T cells may contribute to the initiation and progression of multiple autoimmune and inflammatory diseases. Studies on disease-associated genetic polymorphisms have highlighted the importance of biological context for many regulatory variants, which is particularly relevant in understanding the genetic regulation of the immune system and its cellular phenotypes. We have profiled the epigenomes and transcriptomes of purified immune cells from participants of the Estonian Biobank. When comparing young vs old or individuals with Grave’s disease vs controls, we detected epigenetic changes in several genes that are important for proper immune response. eQTL mapping in CD4+ and CD8+ T cells revealed both cis– and trans-acting variants affecting the expression of hundreds of genes. Most remarkably, we identified a common missense variant in IL27, associated with type 1 diabetes, that results in decreased functional activity of the protein and reduced expression levels of IRF1 and STAT1 in CD4+ T cells. Altogether, our results indicate that studies in purified T cells provide novel functional insights into polymorphisms and pathways associated with autoimmune diseases and aging.
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