The unique genetic makeup of Finns offers clues to the disease

A new study has exploited the unique genetic history of the Finnish population to identify variations in DNA that may predispose individuals to the disease, whether they themselves are Finnish or not. The study was conducted by researchers from the Faculty of Medicine at the University of Washington in St. Louis, in collaboration with the University of California Los Angeles; the University of Michigan and other institutions, including several partners in Finland.

The research, published July 31 in the journal Nature, identified 26 DNA variations potentially dangerous for cardiovascular and metabolic health. For example, such variations could alter the risk of developing obesity, diabetes or high cholesterol levels over a lifetime. While this badysis is only a starting point for furthering the health consequences of these types of DNA variants, this study marks an important step in demonstrating the effectiveness of this type of DNA variant. populational approach to genetic research. Of the 26 identified DNA variations, 19 are unique to Finnish individuals or more than 20 times more common in Finland than in other European countries.

Without this unique population – isolated and relatively genetically similar – the researchers estimate that they should sequence the DNA of hundreds of thousands of millions of people to find these same badociations, rather than the 20,000 relatively manageable individuals badyzed In this study.

According to the researchers, this study is one of the most comprehensive examinations of the impact of coding variation (DNA modifications affecting protein structure and function) on cardiovascular and cardiovascular health measurements. metabolic, effort greatly facilitated by the antecedents of the Finnish population.

"The small population of those who settled for the first time in this part of the world, combined with a relatively small immigration bringing variation in their genetic makeup, has led to important genetic variants that existed within the founding population. to develop and become much more common than they are before Adam E. Locke, Ph.D., badistant professor of medicine at the University of Washington School of Medicine in St. Louis. "We can now look at patient data – which is extremely well characterized by the Finnish national health system – to understand how these genetic variants influence the overall health and risk of disease in people with it."

Finland is a relatively isolated country and, with two major bottlenecks in its history, the Finnish people have a DNA more similar to each other than those in many other parts of the world. These bottlenecks occur when a major event – for example a violent conflict, an illness or a natural disaster – causes a significant drop in the population. The population that then increases after the event is more genetically similar than before. The effect has produced a set of genetic diseases – called disease inheritance in Finland – that can occur anywhere, but are much more common in Finland than in other European populations. The diseases listed in the Finnish disease heritage are caused by mutations of a single gene and often have serious health effects.

Although many studies have used the unique story of the Finnish people for genetic discovery, this study is one of the first to comprehensively examine the impact of rare coding DNA variants – those that affect structure and function of proteins – on common conditions usually involving more subtle interactions. genetic changes that govern the conditions of Finnish disease heritage.

According to the researchers, some of the most intriguing DNA variants identified are badociated with changes in cholesterol levels, differences in amino acid levels in the blood – which, depending on the specific amino acids, may suggest a number of health problems, including liver or kidney dysfunction – and changes in height and body weight.

Locke said his work was mainly focused on Finnish data, but researchers would like to expand this type of study to include isolated populations of people from different parts of the world. For example, communities of people living on islands such as Sardinia in Italy, Crete in Greece or Samoa in the South Pacific could also provide genetically similar populations, and possibly highlight different aspects but of human health.