Finns’ unique genetic makeup offers clues to disease

A study of Finns, with their similar DNA, gives new hints to cardiovascular and metabolic disease risks.

Analyzing 20,000 individuals, researchers identified 26 potentially harmful DNA variations relevant to cardiovascular and metabolic health. Of the 26 DNA variations, 19 are either unique to Finnish individuals or over 20 times more frequent in Finland compared with elsewhere in Europe.

"The small population of people who first settled this part of the world, combined with relatively little immigration that would add variation to the gene pool, has pushed important genetic variants that first existed in the founding population to expand and become much more common than they would be elsewhere," said first author Adam E. Locke, PhD, an assistant professor of medicine at Washington University School of Medicine in St. Louis.

"Now we can delve into the patient data, which is extremely well-characterized through Finland's national health-care system, to understand how these genetic variants influence overall health and disease risk in the people who have them," he said.

Finland is a relatively isolated country. The Finnish people have DNA more similar to one another than people in many other parts of the world. The effect has produced a set of genetic diseases, called the Finnish Disease Heritage that can occur anywhere but are much more common in Finland than in other European populations.

The study is among the first to comprehensively examine the impact of rare, coding DNA variants, the kind that impact protein structure and function, on common conditions that typically involve more subtle changes in genetics than those driving the conditions of the Finnish Disease Heritage.

Though the study primarily is focused on data from Finland, the researchers would like to expand this type of study to include similarly isolated populations of people from different parts of the world.

The study was published Wednesday in the journal Nature.