A2 Refereed review article in a scientific journal
The Finnish genetic heritage in 2022 - from diagnosis to translational research
Authors: Uusimaa Johanna, Kettunen Johannes, Varilo Teppo, Järvelä Irma, Kallijärvi Jukka, Kääriäinen Helena, Laine Minna, Lapatto Risto, Myllynen Päivi, Niinikoski Harri, Rahikkala Elisa, Suomalainen Anu, Tikkanen Ritva, Tyynismaa Henna, Vieira Päivi, Zarybnicky Tomas, Sipilä Petra, Kuure Satu, Hinttala Reetta
Publisher: Company of Biologists
Publication year: 2022
Journal: Disease Models and Mechanisms
Journal name in source: Disease models & mechanisms
Journal acronym: Dis Model Mech
Article number: dmm049490
Volume: 15
Issue: 10
ISSN: 1754-8403
eISSN: 1754-8411
DOI: https://doi.org/10.1242/dmm.049490
Web address : https://journals.biologists.com/dmm/article/15/10/dmm049490/278566/The-Finnish-genetic-heritage-in-2022-from
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/177260219
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype-phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations.
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