Finnish gene pool and health register data

Isolated population with bottlenecks

Finland is a well-known example of an isolated population where multiple historical bottleneck events (linguistic isolation, famines, epidemics, etc.) followed by consecutive founder effects have shaped the gene pool of present-day Finns.

Geopolitical changes affected the genetic landscape

Geopolitical changes in the 16th century led to major migratory movements within Finland in the eastern and northern regions. These resulting settlements, initially founded by small numbers of people, have grown in size over time leading to secondary population bottlenecks.

These historical bottlenecks have affected the genetic landscape of Finland and the frequency profile of variants across the entire genome. This provides an excellent opportunity to discover disease-associated genes, as some of the underlying (and initially rare) causal variants have reached a much higher frequency during these population bottlenecks than anywhere else in the world.

This also means other rare variants that were not present in the bottleneck events are completely depleted in Finland.

Long-term investment in healthcare

FinnGen capitalizes on Finland’s decades-long investment in Finnish healthcare, health registries, epidemiological research, and biobanks.

How can FinnGen thrive in Finland?

Defining multi-dimensional phenotypes from longitudinal registry data

FinnGen utilizes the extensive longitudinal registry data available on all Finns to study the genetic components of human health. The opportunity to define informative and multi-dimensional phenotypes from this data is at the heart of FinnGen, and what makes it unique in the present landscape of genetic studies.

Combining data from all these different registries provides opportunities to construct reliable disease endpoints, as well as novel long-term phenotypes of disease progression and therapeutic response.

This registry data enables us to construct treatment trajectories that are difficult to accomplish in most other parts of the world.

Further reading

• Changes in the fine-scale genetic structure of Finland through the 20th century

• Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

• Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland