OU领导乌克兰遗传多样性研究

由365英国上市官网的一组研究人员领导, the largest study of genetic diversity in Ukraine has been published in the open science journal GigaScience. The study provides data on genetic variants associated with human health and describes historical factors that helped give rise to remarkable genetic variation in a part of the world that has been underrepresented in genome research. The project was an international effort that brought together researchers from Ukrainian institutions, 由乌日霍罗德国立大学领导, 以及美国的一些机构.S. 和中国. 

“Our study shows t在这里 is significant genetic diversity in Ukraine, 一个在基因组调查中没有被优先考虑的国家,塔拉斯·奥列塞克说, 生物科学助理教授, 这项研究的首席研究员. “We found more than 13 million genetic variants among the DNA samples — nearly 500,其中有000人以前没有证件.”  

同时提供乌克兰特有的基因数据, the study also contributes to the Human Genome Diversity Project (HGDP), an international effort to map the entire pattern of human genetic variation across the world. Building this map has entailed numerous global surveys of individual genomes in a variety of geographic regions and populations. However, notable gaps have remained, including in Eastern Europe and the Eurasian Steppe.

乌克兰也在其中, 完全位于欧洲的最大国家, with a population that was formed through thousands of years of migration and genetic admixture. This territory served as the historic and prehistoric crossroads for the spread of humans throughout Europe and into Asia. Migration events 在这里 included the expansion of modern humans into Neanderthal lands, the movement of nomads and early farmers just starting to domesticate plants and animals, 中世纪的大迁徙, as well as commercial and cultural transactions along the Silk Road.

This broad sweep of human experience has shaped the genomes of Ukrainians and other peoples to the present day, Oleksyk解释说.

“几千年来，人类在世界各地迁徙, 他们获得了基因突变, 通常是由于对特定环境的适应,他说. “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.”

作为对乌克兰人基因多样性关注的一部分, the study also identified medically relevant mutations whose prevalence differed significantly compared to other European genome sequences openly available through the HGDP.

和其他欧洲人相比, Ukrainians in the study had significantly fewer carriers of specific mutations linked to breast cancer and Leber Congenital Amaurosis, 一种罕见的遗传性眼病. 另一个突变, 已知能抑制一种用于治疗骨骼疾病的药物, 在乌克兰也不那么普遍. However, they more often held a mutation associated with autism.

These findings contribute to a growing body of knowledge that could help clinicians assess the medical needs of specific geographic areas and populations. 

“With a deeper understanding of how mutations factor into disease, 医生可以根据人们的基因特征定制治疗方案,奥列塞克说. “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.”

除了, the Ukraine survey identified mutations that were prevalent in disease-associated genes, 但其确切效果尚不清楚. These mutations could be prime candidates for future research studies.

除了医学, the survey is an important step in showing the breadth of genetic diversity in Ukraine — a nation once thought to lack genetic relevance. 基于这项研究的发现, Oleksyk points out that Ukraine accounts for roughly a quarter of the genetic variation documented in Europe.

“It’s a part of the world that cannot be ignored in future genetic and biomedical studies,他说.

With the study’s data and findings now publicly available, researchers around the world can use the information to carry out their own studies in areas from human biology and medicine to human history and prehistory. 

The Ukraine study was an international collaboration led by 365英国上市官网, in collaboration with Uzhhorod National 大学 (Ukraine), 国家癌症研究所(美国), 华大基因深圳(中国), 密歇根大学和其他大学. The paper acknowledged 28 co-authors, including six at 365英国上市官网. 还有奥莱克西克, 公开大学的共同作者是教员Fabia Battistuzzi, 研究生Walter Wolfsberger, Khrystyna Shchubelka和Stephanie Castro-Marquez, 以及本科生萨拉·麦德利.

The GigaScience article, “Genome Diversity in Ukraine,” is available 在这里. 可以找到支持数据 在这里.