Andrea Gelemanović1
1Mediterranean Institute for Life Sciences, Meštrovićevo šetalište 45, Split, Croatia
andrea.gelemanovic [at] medils.hr
Abstract
Understanding the molecular and environmental basis of diseases in order to improve diagnosis and treatment represent a top priority for researchers. Much of the progress occurred following the growth of various omics technologies and the IT progress in developing large electronic databases capable of storing huge amounts of data. Biobanks represents the most valuable resource for personalized medicine as these are the large collection of various patient samples with well-annotated clinical data which strive to identify possible links between genetic predisposition and disease. A significant step forward are biobanks that are linked to the electronic health records of each participant enabling up-to-date source of relevant medical information and those “deeply phenotyped” for various other omics data, such as microbiome, epigenome, transcriptome, metabolome and proteome.
Since infectious diseases still represent a huge threat to global human health, and host genetic factors have been implied as determining risk factors for observed variations in disease susceptibility, severity, and outcome, during this lecture we will discuss challenges and opportunities of using biobanks as a potential source to study infectious diseases based on the case example of isolated population-based longitudinal biobank “10,001 Dalmatians”. Results of a genome-wide association meta-analyses of 14 different infectious-related phenotypes identified 29 infection-related genetic associations, most belonging to rare variants, all of which have a role in immune response. These findings support the concept that host genetic susceptibility to bacterial and viral infections in adults is polygenic, where common variations have very low explained variance and/or “unfortunate” combinations of numerous rare variants. Expanding our understanding of rare variants may help in the construction of genetic panels which might predict an individual’s lifetime vulnerability to major infectious diseases. Furthermore, longitudinal biobanks are a valuable source of data for discovering host genetic variations involved in infectious disease susceptibility and severity. Because infectious diseases continue to exert selective pressure on our genomes, a global network of biobanks with access to genetic and environmental data is required to further explain complicated mechanisms underlying host-pathogen interactions and infectious disease vulnerability.
Keywords: biobanks, “10,001 Dalmatians”, genome-wide association studies, rare variants, infectious diseases
