Researchers Put Ukraine on Global Genome Map

by johnsmith

People of Ukraine carry many previously known and several novel genetic variants with clinical and functional importance that in many cases show allele frequencies different from neighboring populations in the rest of Europe, according to an analysis of genome-wide data from 97 individuals from Ukraine.

Ukrainian cossacks by Andriy Liah.

Ukrainian cossacks by Andriy Liah.

Two decades ago, after the publication of the draft of the human genome, one of the largest exploration projects in the genomics era began — the Human Genome Diversity Project (HGDP). This is an enormous international effort to map the entire pattern of human genetic variation across the world.

To build this map, there have been numerous global surveys of individual genomes in a variety of geographic regions and populations, but crucial gaps still remain. One of the most notable is in Eastern Europe and the Eurasian steppes.

Central to this is Ukraine, the largest country located fully in Europe, with a population that was formed as a result of several millennia of migration and admixture.

It occupies the intersection between the westernmost reach of the great steppe and the easternmost extent of the great forests that spread across Europe, at the crossroads of the great trade routes from ‘Variangians to the Greeks’ along the river Dnipro, which the ancient Greeks referred to as Borysthenes, and the Silk Road linking civilizations of Europe and Asia.

This land has seen the great human migrations of the Middle Ages sweeping from across the great plains, and even before that in the more distant past, of the early farmers and the nomads who first domesticated the horse.

“Our study shows there is significant genetic diversity in Ukraine, a country that had not been prioritized in genome surveys,” said lead author Dr. Taras Oleksyk, a researcher in the Department of Biological Sciences at Oakland University.

“We found more than 13 million genetic variants among the DNA samples — nearly 500,000 of which were previously undocumented.”

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

“As humans moved across the world over millennia, they gained genetic mutations, often due to adaptation to their specific environments. These mutations have been passed down through generations, so when we look at genomes of Ukrainians and other populations, what we see is a reflection of their unique evolutionary histories.”

In the research, led by Oakland University and Uzhhorod National University, Dr. Oleksyk and colleagues looked for variants in the Ukrainian population whose prevalence differed significantly compared to other European genome sequences openly available through the HGDP.

In particular, the researchers identified medically relevant mutations whose prevalence in the Ukrainian genomes differed significantly compared to other European genome sequences that are all openly available as part of the HGDP and the 1,000 Genomes Project.

Some of the mutations identified have been linked to conditions such as breast cancer, autism and Leber Congenital Amaurosis (LCA), a rare inherited eye disease.

Compared to other Europeans, Ukrainians in the study had far fewer carriers of a mutation linked to breast cancer and LCA. However, they more often held a mutation associated with autism.

Another mutation, known to inhibit a drug used to treat bone disorders, was less prevalent in the Ukrainians compared to the other Europeans.

These findings contribute to a growing body of knowledge that could revolutionize modern medicine and provide more informed assessment of the medical requirements and resources needed in different areas, populations and peoples.

“With a deeper understanding of how mutations factor into disease, doctors can tailor treatments to people’s genetic profile,” Dr. Oleksyk said.

“That’s why it’s important to have detailed descriptions of the world’s genomes. This knowledge could profoundly impact human health, and even save lives.”

In addition, the study identified mutations that were prevalent in disease-associated genes, but whose precise effect is unknown. These mutations could be prime candidates for future research.

“Our results indicate that the genetic diversity of the Ukrainian population is uniquely shaped by evolutionary and demographic forces and cannot be ignored in future genetic and biomedical studies,” the scientists said.

“These data will contribute a wealth of new information bringing forth a wealth of novel, endemic and medically related alleles.”

The results were published in the journal GigaScience.


Taras K. Oleksyk et al. 2021. Genome diversity in Ukraine. GigaScience 10 (1): giaa159; doi: 10.1093/gigascience/giaa159

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