Statistical geneticist exploring genetic variants contributing to protein glycosylation
My name is Arianna and I come from Parma, a town in northern Italy famous for its food, architecture and art. I started my academic path at University of Parma, in my hometown. There I graduated in Food Science, with a thesis evaluating the genetic biodiversity of different cherry and fig tree cultivars, peculiar of the Parma province geographic area. I then decided to further my studies at the University of Bologna, where I obtained a master’s degree in Biodiversity and Evolution, working on a project assessing the possible adaptive evolution of Asian populations in response to rice-based diets.
Overall, I am interested in human populations’ biodemography and genetics and in effects of natural selection on human evolution, especially when it is diet triggered.
I joined the IMforFUTURE network in September 2018 as ESR11, working at University of Edinburgh under the supervision of Prof. James Wilson and Dr. Lucija Klarić. My research project “Genetic variants in protein glycosylation” mainly consists in investigating the contribution of low frequency and rare genetic variants to glycomic and glycoproteomic variation.
What are glycans?
Glycosylation is one of the most frequent modifications that can occur to a protein, where a sugar molecule, called glycan, is attached to the protein chain. The large-scale study of the whole collection of glycans in an organism is called glycomics. Despite glycans being involved in the aging process and in a wide variety of diseases (as for example type 2 diabetes, cancer, Crohn’s disease and rheumatoid arthritis), genes regulating the glycosylation process of proteins have been only partially identified.
Why are rare genetic variants relevant?
To date, a large part of genetic variation influencing complex traits and diseases still remains unexplained. In fact, genetic variants that have been identified by far are able, even taken all together, to explain only a portion, smaller than expected, of the heritability of these traits. This situation is usually referred as the “missing-heritability problem”. The “missing-heritability problem” is also caused by the fact that rare and low-frequency variants are overall under-studied, even if their contribution to genetics of complex traits has been shown to be not negligible.
What is my research project about?
The aim of my project is to address this knowledge gap, investigating the contribution of low frequency and rare genetic variants to glycomics. For reaching this goal, I’m analysing samples coming from genetically isolated populations, which are in fact really advantageous for studying rarer genetic variants: in fact, some alleles found at low frequency in the general population may haven risen insteadat higher frequency in isolated populations. Power to detect rare variants possibly associated to glycosylation is further boosted by the fact that highly dense genetic data are available for these cohorts.