The Genetic Diversity Project adds pieces to the Human Diversity Puzzle

Ukraine’s International Genetic Diversity Project in Europe accounts for a quarter of genetic changes, dramatically increasing information on population diversity և medical genetic variation.

Today, the largest study of genetic diversity in Ukraine was published in an open scientific journal GigaScience:, The project was an international effort to bring together researchers in Ukraine, the United States and China, the first fruits of this collaboration, which established a new Central European Center for Genomic Research in Ukraine. The work, led by researchers at Uzhorod National University and Auckland University in the United States, provides a genetic perspective on historical prehistoric migration settlements at one of the key crossroads of Eurasian human trade and migration, as well as genetic identification. options of medical interest among the Ukrainian population, which differ from other European populations.

Two decades ago, after the publication of the Human Genome Project, one of the largest exploration projects of the genomics era began. The Human Genome Diversity Project (HGDP). This is a huge international effort to map the whole pattern of human genetic variation around the world. To build this map, separate global studies of many genomes in different geographical populations have been performed, but there are still gaps. One of the most remarkable is in Eastern Europe and the Eurasian steppes.

This is possible in Ukraine, which is the largest country in Europe. It consists of a population formed by migration over millennia. This area served as a prehistoric, historical crossroads: the spread of people in Europe and Asia. Migratory events here included the modern expansion of mankind into the Neanderthal area, the movement of nomads և early farmers who had just begun to domesticate plants և animals, large human migrations in the Middle Ages և Silk Road trade routes.

Oleksyk terrace

Lead author Dr. Taras Oleksik at the University of Auckland Laboratory in Rabster. Loan: University of Auckland

Leading researcher at the University of Auckland Taras Oleksik says. “Our study shows that there is considerable genetic diversity in Ukraine, a country that did not excel in genome research. We found more than 13 million genetic variants DNA: samples, almost 500,000 of which were not previously documented. ”

These variants, commonly known as mutations, are the result of evolutionary and demographic factors that have shaped the genetic makeup of Ukrainians throughout history.

Olexik explains. “Over the millennia, people have moved around the world and inherited genetic mutations, often due to adaptation to their specific environment. “These mutations have been passed down through the generations, so when we look at the genomes of other Ukrainians, what we see is a reflection of their unique evolutionary history.”

The study is an important part of understanding human diversity, as it shows the breadth of genetic diversity in Ukraine, a people for whom it was once thought to have no genetic significance.

Oleksik emphasizes this, saying that their research shows that “Ukraine accounts for about a quarter of the genetic variations documented in Europe. It is a part of the world that cannot be ignored in further genetic and biomedical research. ”

The study of genetic diversity, in addition to providing insight into human history, also plays an important role in identifying medically relevant mutations that differ from population to population. In this study, researchers looked for variants in the Ukrainian population whose prevalence differed significantly from other sequences of the European genome clearly accessible via HGDP.

In particular, the study found medically relevant mutations, the prevalence of which in the Ukrainian genomes differs significantly from other sequences in the European genome, all of which are available under the HGDP և 1000 genome project. Certain mutations are associated with conditions such as breast cancer, autism և Leber Congenital Amaurosis (LCA) – a rare inherited eye disease.

Compared to other Europeans, Ukrainians in the study had far fewer carriers of the mutation associated with breast cancer և LCA. However, they were more likely to have an autism-related mutation. Another mutation, known to inhibit the use of drugs to treat bone disorders, was less common in Ukrainians than in other Europeans. These discoveries contribute to the growing body of knowledge that can revolutionize modern medicine, provide a more informed assessment of the medical needs of people in different fields, populations, and peoples.

“With a deeper understanding of how mutations cause disease, doctors can tailor treatment to a person’s genetic profile,” Olexik said. “That’s why we can describe the genomes of the world in detail. This knowledge can have a profound effect on human health and even save lives. ”

In addition, a study in Ukraine found mutations that are common in disease-related genes, the exact effect of which is unknown. These mutations may be major candidates for further research.

With this data now available, in addition to the results of this work, researchers around the world can now use that data to conduct their own research, from human biology to medicine to the discovery of human history.

Genomic data is openly available at GigaDB: http: // www. // gigadb:org /data set /100835 B EBI European Nuclear Archive under the project: PRJNA661978.

Reference. January 13, 2021 GigaScience:,
DOI: 10.1093 / gigascience / giaa159:

Funding. Uzhorod National University, University of Auckland Rochester Michigan, National Cancer Institute, BGI

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