Antigone Dimas, MSc, PhD
My research background is in human genetics and I have always been fascinated by the impact of genetic variation on phenotypes. In my PhD thesis I explored how regulatory variation shapes gene expression in different human populations and cell types. I am currently investigating the regulatory nature of genetic variants associated with disease phenotypes, in a collaborative project between the groups of Mark McCarthy (WTCHG) and Manolis Dermitzakis (University of Geneva). My work involves integrating information from disease and expression genome-wide association studies (GWAS). Exploring the overlap between genomic regions that harbour disease SNPs and expression quantitative trait loci (eQTLs) is likely to assist the biological interpretation of SNPs with significant associations to disease and will help prioritize genes with a role in shaping disease risk. My primary focus is type 2 diabetes and I am using expression data from multiple cell types to explore the impact of cell type-specific use of regulatory machinery on disease. Complementing results from disease GWAS with expression association data can point to genes that have not been reported in primary studies and may provide a rapid route towards direct functional confirmation of implicated molecular mechanisms. Using gene expression as an intermediate step to connect DNA variation and higher level phenotypes is an important way forward.
Before starting my PhD in human genetics, I worked as a journalist and a management consultant, and have also done research on the genetics of hypertension.
Dimas, A.S. and Dermitzakis, E.T. Genetic variation of regulatory systems. 2009. Curr Opin Genet Dev 19:586-590. PMID: 19926473
Dimas, A.S., S. Deutsch, B.E. Stranger, S. Montgomery, C. Borel, C. Ingle, C. Beazley, M. Gutierrez Arcelus, H. Attar-Cohen, M. Sekowska, M. Gagnebin, J. Nisbett, P. Deloukas, E. T. Dermitzakis, S. E. Antonarakis. 2009. Most common regulatory variation impacts gene expression in a tissue-dependent manner. Science 325: 1246-1250. PMID: 19644074
Dimas, A.S., B.E. Stranger, C. Beazley, R.D. Finn, C.I. Ingle, M.S. Forrest, M. Ritchie, P. Deloukas, S.Tavare, E.T. Dermitzakis. 2008. Modifier effects between regulatory and protein-coding variation. PLoS Genetics Oct;4(10):e1000244. PMID: 18974877
Stranger, B.E., A.C. Nica, M.S. Forrest, A. Dimas, C.P. Bird, C. Beazley, C.E. Ingle, M. Dunning, P. Flicek, S., Montgomery, S. Tavare, P. Deloukas, E.T. Dermitzakis. 2007. Population genomics of human gene expression. Nat Genetics 39: 1217-1224. PMID: 17873874
The ENCODE Project Consortium. 2007. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799-816. PMID: 17571346
Human population genomics
Impact of genetic variation on gene regulation
Fine-scale architecture of the regulatory landscape
Genetics of type 2 diabetes
Genome wide association, Gene expression, Tissue specificity of regulatory variation, Epistasis