New study of the genome of Ukrainians, carried out by scientists of Uzhhorod National University, supplemented the knowledge about the diversity of the world's population

New study of the genome of Ukrainians, carried out by scientists of Uzhhorod National University, supplemented the knowledge about the diversity of the world's population

On Wednesday, January 13, 2021, Uzhhorod National University hosted a press conference dedicated to the presentation of a fundamental study of genome diversity, carried out by a group of reserchers under the guidance of Uzhhorod National University scientists, the materials of which were published in the open scientific journal Giga Science. In her introductory speech, Uzhhorod National University Vice-Rector Myroslava Lendel said “The results of the scientific work of national, international and global significance are very important for any university. At this press conference we present the scientific results achieved by the international team under the guidance of UzhNU scientists to the Ukrainian and the world community. The goal of this project is to introduce the best world technologies and experience in our country."

 The Rector of the university, Prof. Volodymyr Smolanka, emphasized: “It is symbolic that we start the new year with good news at Uzhhorod National University - we are presenting the results of a large-scale study we conducted in collaboration with Auckland University (USA), National Cancer Institute (USA), Beijing Institute of Genomics and our colleagues from all over Ukraine, who helped us to collect blood samples. As a result of the research that is unprecedented for Ukraine and is of global significance, we have supplemented the genetic map of Europe. It was also important for us to identify those genetic variations and mutations that may be the evidence of predisposition to certain diseases."

The results of the study do not only inform about genetic variations of medical significance in these areas, they also allow to understand demographic, historical and prehistorical migration processes with the help of genetics.

Two decades ago, after the first publication of the human genome map, a new stage in the world science began - the study and understanding of the genomic diversity of different human populations. Each of them has genetic variations (mutations) that are unique and absent in other peoples. The first major project to describe such differences between humans was the Human Genome Diversity Project (HGDP), initiated by the famous Italian scientist Luigi Luca Cavalli-Sforza. Huge efforts worldwide have been made to register and describe all important genomic variations on the genome map of the world. To build this map, scientists have studied the genome of individuals from different geographical regions and populations, however, the crucial gaps have not been filled yet. One of these "white spots" on the genome map of the world is Eastern Europe and the Great Eurasian Steppe.

  Ukraine is a key country leading to understanding the genome diversity of people in Eastern Europe, as it is the largest country located entirely in Europe with its population formed as a result of millennia of migration processes, wars and assimilation. This area has long served as a prehistorical and historical crossroads for the resettlement of people throughout Europe and Asia. These are the lands where the expansion of our species, Homo sapiens, onto the territory inhabited by Neanderthals began. Early farmers settled here, who were just beginning to cultivate plants and domestic animals. Mass migration routes in the Middle Ages passed through the territory of modern Ukraine, as well as the trade routes between the Baltic and the Mediterranean, Europe and Asia along the ancient Silk Road.

 Professor Taras Oleksyk, the project manager from Uzhhorod National University and the author of the article, says: “Our study shows that there is significant and previously unknown genome diversity in Ukraine, a country that has not been a priority in human genomic research to date. By studying the Ukrainians’ DNA samples, we found more than 13 million genetic variations, almost 500,000 of which were previously unrecorded."

These genetic variations, widely known as mutations, are the result of evolutionary and demographic processes that have shaped the gene pool of Ukrainians throughout history. In particular, the study identified medically significant mutations, the prevalence of which in the genome of Ukrainians differs significantly compared to other European populations. For example, some of the mutations found have been linked to conditions such as breast cancer, autism and Leber congenital amaurosis (LCA), a rare inherited eye disease.

Khrystyna Shchubelka, a leading researcher of the project and an alumna of Uzhhorod National University, adds: “We have indeed found many cases of statistically proven significant differences in the frequency of certain mutations in Ukrainians compared to Europeans or Russians. For example, certain particles of the genome that have been proven to be associated with vitamin D deficiency are relatively common among Ukrainians. However, this does not mean that Ukrainians have a higher deficiency of this vitamin than other nations. This issue needs to be studied and proven. So far, we have approached the stage when we need to carry out further research based on the findings of our first project and compare the phenotype with the genotype. And most importantly, our publicly available data can be used by Ukrainian and world scientists."

Deciphering the DNA codes would not be possible without the painstaking work performed by the scientists specializing in bioinformatics, who can use computer codes and programmes to read and find meaning in the 3 billion nucleotides of the human genome. This piece of work was guided by Walter Wolfsberger, an alumnus of the Faculty of Information Technologies of Uzhhorod National University: “Modern genome research produce huge amounts of data. If in the past geneticists always worked in a typical laboratory, at present most of the work is done in front of a PC monitor and with the help of powerful computer servers. This year, UzhNU is going to purchase such server for further genome projects. This opens up new opportunities for IT graduates to apply their knowledge in the state-of-the-art and most exciting field,” he said.

  The study of genome diversity of Ukrainians has shown that in the future scientists should pay more attention to the populations that were once considered to be irrelevant in the field of genome studies. Based on the project results, Taras Oleksyk notes that Ukraine accounts for about a quarter of all the genetic variations recorded in Europe. This part of the world cannot be ignored in future genome and biomedical research.

 "Given a deeper understanding of how mutations affect the course of the disease, doctors can adapt therapies to the genetic profile of specific patients," said Taras Oleksyk. "That is why it is important to have detailed descriptions of the genomes of the peoples of the world. This knowledge can have a positive effect on human health and even save lives." Moreover, scientists have identified a lot of gene mutations associated with various diseases, but their exact effect is still unknown. These mutations may be the topics for future biomedical and clinical research.

BGI co-founder and chairperson Yang Huanming shares similar sentiments when discussing the issue of joining this genome project in Ukraine: “Since we founded BGI more than 20 years ago, we promised to follow the HGP (Human Genome Project) slogan, namely, "needed by everyone, belongs to all, carried out by everybody and with joint efforts". Ukraine is one of the most important countries in Europe. When we founded BGI, we were in the same boat, wanting to improve the lives for everyone and do our best to develop new drugs and genomic medicine. We will work together on the development of all omics technologies, building the technical infrastructures such as sequencing and big data analysis, not only for research but also for innovation in new testing tools and drugs, as well as for genomic medicine.”

The project data have become available to scientists worldwide and they can now access their own research in a variety of fields, from biology and human medicine to unraveling the mysteries of human history. The obtained data are not only of medical significance, but also allow to understand demographic, historical and prehistorical migration processes through genetics.

 Genome research in Ukraine is the result of international collaboration between Uzhhorod National University (Ukraine), Auckland University (USA), National Cancer Institute (USA), Beijing Genomics Institute (China), etc. 28 co-authors, including 7 from UzhNU, worked on the article. Lots of endocrinologists from different parts of Ukraine were involved in collecting the biological samples. The co-others representing UzhNU in this research are Taras Oleksyk, Walter Wolfsberger, Khrystyna Shchubelka, Olha Oleksyk, Patricia Boldizhar, Yaroslava Hasynets and Volodymyr Smolanka.

 It is also worth noting that Uzhhorod National University is currently conducting a genomic study in the EU border area under the project "Partnership for Genomic Research in Ukraine and Romania" with the support of the Joint Operational Programme Romania-Ukraine 2014-2020. Genome data will allow to obtain the most detailed and objective picture of genetic diversity, to see the genetic roots that have formed the modern population of Transcarpathia and northern Romania.

  The article in GigaScience journal "Genome diversity in Ukraine" can be found at the link.