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The last years, hundreds of genetic variants influencing the risk of common diseases have been identified through genome-wide association studies (GWAS). Despite this success, only a small fraction of the genetic contribution to disease has been identified, and most of the genetic factors remain unknown. This “missing heritability” might be explained by the contribution of rare and population specific single nucleotide variants (SNVs), which are underrepresented in GWAS, in combination with epigenetic factors such as DNA methylation. My research aims to study the effect of environmental factors on DNA methylation and the influences of genetic and epigenetic factors on disease risk. One of the specific aims of my research is to identify how rare and population specific SNVs contribute to the etiology of human traits.
Another part of my research I foucs the DNA methylation. A number of environmental factors, such as infection, radiation, toxins, and nutrition status might affect DNA methylation and introduce permanent changes in gene regulation. In our data we can see that factors such as age and smoking, but also nearby SNPs dramatically influence the DNA methylation at specific sites. Other factors, such as diet, and activity, which are potential agent that can alter the DNA methylation, are also investigated.
By integrating data form different large-scale omics-platforms (genomic, epigenomics lipidomics and proteomic) in population data, we are studying the relation between the genetic variants, variation in epigenetic modifications, the gene products and metabolites.
The goal with my research is to enlighten the contribution of rare and population specific SNVs to human disease, and the medical consequences of epigenetic changes. The results from this project will be valuable for a better understanding of disease development. Given the current interest in epigenetic drugs, the results DNA methylation changes that will be identified might serve as potential targets for diagnostic tests and therapeutic interventions.
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