FinnGen 3 Pulmonology Task Force access request for spirometry and DLCO data
12.05.2025
FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. Asthma, COPD (Chronic obstructive pulmonary disease), and ILD (Interstitial lung disease) are common lung diseases and so-called umbrella diagnoses including several clinical phenotypes and molecular genetic endotypes. In all of these diseases, gene discovery has conclusively revealed tens of susceptibility variants across the genome. Most of the identified variants are non-coding which makes it more challenging to show their relevance in disease biology, not to mention progression, severity or therapeutic response. FinnGen aims to fill this gap by bringing a depth of disease and therapeutic history information over decades that is not readily available in other large-scale biobank efforts. To further supplement the genetic study, we will use protein markers of blood taken in different stages of the disease.
