The national FinnGen genetic research project, coordinated by HUS and the University of Helsinki, has produced a wide range of research findings that have been made available to the international scientific community.
The novel research based on biobank samples will benefit not just the scientific community but also patients worldwide. An example of the achievements of FinnGen is a glaucoma study that uncovered a factor protecting against glaucoma in Finnish biobank samples.
Each year in Finland, about 2,500 people are diagnosed with glaucoma, and there are more than 90,000 people on glaucoma medication in the country. Ophthalmology specialist Joni Turunen from HUS was involved in a study of samples from glaucoma patients obtained from FinnGen and the UK Biobank.
The purpose of the study was to identify protein-altering variants that either expose the patient to glaucoma or protect against it. The research team discovered that variants of a gene named angiopoletin like 7 (ANGPTL7) protect against glaucoma. One of these variants had a prevalence in Finland 50 times higher than in the rest of the world.
“This study proves once again that Finland is a great place to conduct genetic research, due to the population and to the high quality of health care registers,” says Turunen.
This finding makes the ANPTL7 protein fascinating, since its properties can be exploited in developing glaucoma medications. In accordance with the FinnGen agreements, the research findings have already been made freely available to the scientific community.
“Further studies can focus for instance on the role of this protein in regulating intraocular fluid and on the development of medications affecting this function,” says Turunen.
Large datasets and shared research findings accelerate research
At FinnGen, DNA is isolated from a blood sample stored in the biobank. DNA is the molecule that contains the genetic information of its bearer. Then, the points of the DNA strand where variations between individuals are known to occur are isolated.
The genome data obtained from the DNA is then compared to data in various health care registers, such as basic patient details, the medicine reimbursement register maintained by the Social Insurance Institution (KELA) or the Care Register for Health Care (HILMO). Finally, an association study is performed across the entire genome, seeking a correlation between variants in the DNA and various diseases.
The glaucoma study made use of more than 177,000 biobank samples from FinnGen and 255,000 from the UK Biobank. Both datasets included several thousand patients diagnosed with glaucoma. Published in the scientific journal PLOS Genetics, the study was conducted in tandem by a research team at Stanford University led by Manuel Rivas and a research team at FinnGen.