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Mitja Kurki, Juha M Karjalainen, Priit Palta, Timo Petteri Sipila, Kati Kristiansson, Kati M. Donner, Mary Pat Reeve, Hannele M. Laivuori, Mervi Aavikko, Mari Anneli Kaunisto and 159 more
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored 1,2 . FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10 –11 ) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.
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Kurki, M., Karjalainen, J. M., Palta, P., Sipila, T. P., Kristiansson, K., Donner, K. M., Reeve, M. P., Laivuori, H. M., Aavikko, M., Kaunisto, M. A., Loukola, A., Lahtela, E., Mattsson, H., Laiho, P., Parolo, P. D. B., Lehistö, A., Kanai, M., Mars, N., Rämö, J. T., … Palotie, A. V. (2023). FinnGen provides genetic insights from a well-phenotyped isolated population. Nature, 613(7944), 508–518. https://doi.org/10.1038/s41586-022-05473-8
Kurki, Mitja, et al. "FinnGen provides genetic insights from a well-phenotyped isolated population." Nature, vol. 613, no. 7944, 2023, pp. 508–518, https://doi.org/10.1038/s41586-022-05473-8.
Kurki, Mitja, Juha M Karjalainen, Priit Palta, Timo Petteri Sipila, Kati Kristiansson, Kati M. Donner, Mary Pat Reeve, et al. "FinnGen provides genetic insights from a well-phenotyped isolated population." Nature 613, no. 7944 (2023): 508–518. https://doi.org/10.1038/s41586-022-05473-8.
Kurki M., Karjalainen J. M., Palta P. [и др.] FinnGen provides genetic insights from a well-phenotyped isolated population // Nature. — 2023. — Vol. 613, № 7944. — P. 508–518. — URL: https://doi.org/10.1038/s41586-022-05473-8
@article{kurki2023finngen,
title = {{FinnGen provides genetic insights from a well-phenotyped isolated population}},
author = {Mitja Kurki and Juha M Karjalainen and Priit Palta and Timo Petteri Sipila and Kati Kristiansson and Kati M. Donner and Mary Pat Reeve and Hannele M. Laivuori and Mervi Aavikko and Mari Anneli Kaunisto and Anu Loukola and Elisa Lahtela and Hannele Mattsson and Päivi Laiho and Pietro Della Briotta Parolo and Arto Lehistö and Masahiro Kanai and Nina Mars and Joel T Rämö and Tuomo Kiiskinen and Henrike Heyne and Kumar Veerapen and Sina Rüeger and Susanna M. Lemmelä and Wei Zhou and Sanni Ruotsalainen and Kalle Pärn and Tero Hiekkalinna and Sami Koskelainen and Teemu I. Paajanen and Vincent Llorens and Javier Gracia Tabuenca and Harri Siirtola and Kadri Reis and Abdelrahman G. Elnahas and Benjamin B. Sun and Christopher N. Foley and Katriina Aalto‐Setälä and Kaur Alasoo and Mikko Arvas and Kirsi M. Auro and Shameek Biswas and Argyro J. Bizaki-Vallaskangas and Olli Carpén and Chia‐Yen Chen and Oluwaseun Alexander Dada and Zhihao Ding and Margaret G. Ehm and Kari K. Eklund and Martti A. Färkkilä and Hilary K. Finucane and Andrea Ganna and Awaisa Ghazal and Robert Graham and Eric M. Green and Antti Hakanen and Marco Hautalahti and Åsa K. Hedman and Mikko O. Hiltunen and Reetta Hinttala and Iiris Hovatta and Xinli Hu and Adriana Huertas‐Vázquez and Laura Huilaja and Julie Hunkapiller and Howard J. Jacob and Jan-Nygaard Jensen and Heikki Joensuu and Sally John and Valtteri Julkunen and Marc Jung and Juhani M. Junttila and Kai Kaarniranta and Mika A. P. Kähönen and Risto Kajanne and Lila Kallio and Reetta K. Kälviäinen and Jaakko A. Kaprio and FinnGen and Nurlan Kerimov and Johannes Kettunen and Elina Kilpeläinen and Terhi M Kilpi and Katherine Wood Klinger and Veli‐Matti Kosma and Teijo Kuopio and Venla Kurra and Triin Laisk and Jari Antero Laukkanen and Nathan Lawless and Aoxing Liu and Simonne Longerich and Reedik Mägi and Johanna Mäkelä and Antti A. Mäkitie and Anders Mälarstig and Arto Mannermaa and Joseph Maranville and Athena Matakidou and Tuomo J Meretoja and Sahar V. Mozaffari and Mari Niemi and Marianna Niemi and Teemu Niiranen and Christopher J. O’Donnell and Ma´en Obeidat and George Okafo and Hanna Maria Ollila and Antti Palomäki and Tuula Palotie and Jukka Partanen and Dirk S. Paul and Margit K. Pelkonen and Rion K. Pendergrass and Slavé Petrovski and Anne Pitkäranta and Adam Platt and David J. Pulford and Eero Punkka and Pirkko J. Pussinen and Neha S. Raghavan and Fedik Rahimov and Deepak K. Rajpal and Nicole Renaud and Bridget M. Riley-Gillis and Rodosthenis S. Rodosthenous and Elmo Saarentaus and Aino Salminen and Eveliina Salminen and Veikko V Salomaa and Johanna Schleutker and Raisa Serpi and Huei-Yi Shen and Richard W. Siegel and Kaisa Silander and Sanna Siltanen and Sirpa Soini and Hilkka S. Soininen and Jae Hoon Sul and Ioanna Tachmazidou and Kaisa Tasanen and Pentti Tienari and Sanna Katriina Toppila-Salmi and Taru Tukiainen and Jaakko Tuomilehto and Joni A. Turunen and Jacob C. Ulirsch and Felix C. Vaura and Petri Virolainen and Jeffrey F. Waring and Dawn M. Waterworth and Robert Yang and Mari Nelis and Anu Reigo and Andres Metspalu and Lili A. Milani and Tõnu Esko and Caroline S. Fox and Aki Samuli Havulinna and Markus Perola and Samuli Ripatti and Anu Jalanko and Tarja Laitinen and Tomi P. Mäkelä and Robert M. Plenge and Mark I. McCarthy and Heiko Runz and Mark J. Daly and Aarno V. Palotie},
journal = {Nature},
year = {2023},
volume = {613},
number = {7944},
pages = {508--518},
doi = {10.1038/s41586-022-05473-8},
url = {https://doi.org/10.1038/s41586-022-05473-8}
}TY - JOUR AU - Kurki, Mitja AU - Karjalainen, Juha M AU - Palta, Priit AU - Sipila, Timo Petteri AU - Kristiansson, Kati AU - Donner, Kati M. AU - Reeve, Mary Pat AU - Laivuori, Hannele M. AU - Aavikko, Mervi AU - Kaunisto, Mari Anneli AU - Loukola, Anu AU - Lahtela, Elisa AU - Mattsson, Hannele AU - Laiho, Päivi AU - Parolo, Pietro Della Briotta AU - Lehistö, Arto AU - Kanai, Masahiro AU - Mars, Nina AU - Rämö, Joel T AU - Kiiskinen, Tuomo AU - Heyne, Henrike AU - Veerapen, Kumar AU - Rüeger, Sina AU - Lemmelä, Susanna M. AU - Zhou, Wei AU - Ruotsalainen, Sanni AU - Pärn, Kalle AU - Hiekkalinna, Tero AU - Koskelainen, Sami AU - Paajanen, Teemu I. AU - Llorens, Vincent AU - Tabuenca, Javier Gracia AU - Siirtola, Harri AU - Reis, Kadri AU - Elnahas, Abdelrahman G. AU - Sun, Benjamin B. AU - Foley, Christopher N. AU - Aalto‐Setälä, Katriina AU - Alasoo, Kaur AU - Arvas, Mikko AU - Auro, Kirsi M. AU - Biswas, Shameek AU - Bizaki-Vallaskangas, Argyro J. AU - Carpén, Olli AU - Chen, Chia‐Yen AU - Dada, Oluwaseun Alexander AU - Ding, Zhihao AU - Ehm, Margaret G. AU - Eklund, Kari K. AU - Färkkilä, Martti A. AU - Finucane, Hilary K. AU - Ganna, Andrea AU - Ghazal, Awaisa AU - Graham, Robert AU - Green, Eric M. AU - Hakanen, Antti AU - Hautalahti, Marco AU - Hedman, Åsa K. AU - Hiltunen, Mikko O. AU - Hinttala, Reetta AU - Hovatta, Iiris AU - Hu, Xinli AU - Huertas‐Vázquez, Adriana AU - Huilaja, Laura AU - Hunkapiller, Julie AU - Jacob, Howard J. AU - Jensen, Jan-Nygaard AU - Joensuu, Heikki AU - John, Sally AU - Julkunen, Valtteri AU - Jung, Marc AU - Junttila, Juhani M. AU - Kaarniranta, Kai AU - Kähönen, Mika A. P. AU - Kajanne, Risto AU - Kallio, Lila AU - Kälviäinen, Reetta K. AU - Kaprio, Jaakko A. AU - FinnGen AU - Kerimov, Nurlan AU - Kettunen, Johannes AU - Kilpeläinen, Elina AU - Kilpi, Terhi M AU - Klinger, Katherine Wood AU - Kosma, Veli‐Matti AU - Kuopio, Teijo AU - Kurra, Venla AU - Laisk, Triin AU - Laukkanen, Jari Antero AU - Lawless, Nathan AU - Liu, Aoxing AU - Longerich, Simonne AU - Mägi, Reedik AU - Mäkelä, Johanna AU - Mäkitie, Antti A. AU - Mälarstig, Anders AU - Mannermaa, Arto AU - Maranville, Joseph AU - Matakidou, Athena AU - Meretoja, Tuomo J AU - Mozaffari, Sahar V. AU - Niemi, Mari AU - Niemi, Marianna AU - Niiranen, Teemu AU - O’Donnell, Christopher J. AU - Obeidat, Ma´en AU - Okafo, George AU - Ollila, Hanna Maria AU - Palomäki, Antti AU - Palotie, Tuula AU - Partanen, Jukka AU - Paul, Dirk S. AU - Pelkonen, Margit K. AU - Pendergrass, Rion K. AU - Petrovski, Slavé AU - Pitkäranta, Anne AU - Platt, Adam AU - Pulford, David J. AU - Punkka, Eero AU - Pussinen, Pirkko J. AU - Raghavan, Neha S. AU - Rahimov, Fedik AU - Rajpal, Deepak K. AU - Renaud, Nicole AU - Riley-Gillis, Bridget M. AU - Rodosthenous, Rodosthenis S. AU - Saarentaus, Elmo AU - Salminen, Aino AU - Salminen, Eveliina AU - Salomaa, Veikko V AU - Schleutker, Johanna AU - Serpi, Raisa AU - Shen, Huei-Yi AU - Siegel, Richard W. AU - Silander, Kaisa AU - Siltanen, Sanna AU - Soini, Sirpa AU - Soininen, Hilkka S. AU - Sul, Jae Hoon AU - Tachmazidou, Ioanna AU - Tasanen, Kaisa AU - Tienari, Pentti AU - Toppila-Salmi, Sanna Katriina AU - Tukiainen, Taru AU - Tuomilehto, Jaakko AU - Turunen, Joni A. AU - Ulirsch, Jacob C. AU - Vaura, Felix C. AU - Virolainen, Petri AU - Waring, Jeffrey F. AU - Waterworth, Dawn M. AU - Yang, Robert AU - Nelis, Mari AU - Reigo, Anu AU - Metspalu, Andres AU - Milani, Lili A. AU - Esko, Tõnu AU - Fox, Caroline S. AU - Havulinna, Aki Samuli AU - Perola, Markus AU - Ripatti, Samuli AU - Jalanko, Anu AU - Laitinen, Tarja AU - Mäkelä, Tomi P. AU - Plenge, Robert M. AU - McCarthy, Mark I. AU - Runz, Heiko AU - Daly, Mark J. AU - Palotie, Aarno V. TI - FinnGen provides genetic insights from a well-phenotyped isolated population JO - Nature VL - 613 IS - 7944 SP - 508 EP - 518 PY - 2023 DA - 2023/01/18 DO - 10.1038/s41586-022-05473-8 UR - https://doi.org/10.1038/s41586-022-05473-8 ER -
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