FinnGen provides genetic insights from a well-phenotyped isolated population
Creators: name: Kurki, Mitja I.
name: Karjalainen, Juha
name: Palta, Priit
name: Sipilä, Timo P.
name: Kristiansson, Kati
name: Donner, Kati M.
name: Reeve, Mary P.
name: Laivuori, Hannele
name: Aavikko, Mervi
name: Kaunisto, Mari A.
name: Loukola, Anu
name: Lahtela, Elisa
name: Mattsson, Hannele
name: Laiho, Päivi
name: Della Briotta Parolo, Pietro
name: Lehisto, Arto A.
name: Kanai, Masahiro
name: Mars, Nina
name: Rämö, Joel
name: Kiiskinen, Tuomo
name: Heyne, Henrike O.
name: Veerapen, Kumar
name: Rüeger, Sina
name: Lemmelä, Susanna
name: Zhou, Wei
name: Ruotsalainen, Sanni
name: Pärn, Kalle
name: Hiekkalinna, Tero
name: Koskelainen, Sami
name: Paajanen, Teemu
name: Llorens, Vincent
name: Gracia-Tabuenca, Javier
name: Siirtola, Harri
name: Reis, Kadri
name: Elnahas, Abdelrahman G.
name: Sun, Benjamin
name: Foley, Christopher N.
name: Aalto-Setälä, Katriina
name: Alasoo, Kaur
name: Arvas, Mikko
name: Auro, Kirsi
name: Biswas, Shameek
name: Bizaki-Vallaskangas, Argyro
name: Carpen, Olli
name: Chen, Chia-Yen
name: Dada, Oluwaseun A.
name: Ding, Zhihao
name: Ehm, Margaret G.
name: Eklund, Kari
name: Färkkilä, Martti
name: Finucane, Hilary
name: Ganna, Andrea
name: Ghazal, Awaisa
name: Graham, Robert R.
name: Green, Eric M.
name: Hakanen, Antti
name: Hautalahti, Marco
name: Hedman, Åsa K.
name: Hiltunen, Mikko
name: Hinttala, Reetta
name: Hovatta, Iiris
name: Hu, Xinli
name: Huertas-Vazquez, Adriana
name: Huilaja, Laura
name: Hunkapiller, Julie
name: Jacob, Howard
name: Jensen, Jan-Nygaard
name: Joensuu, Heikki
name: John, Sally
name: Julkunen, Valtteri
name: Jung, Marc
name: Junttila, Juhani
name: Kaarniranta, Kai
name: Kähönen, Mika
name: Kajanne, Risto
name: Kallio, Lila
name: Kälviäinen, Reetta
name: Kaprio, Jaakko
name: Kerimov, Nurlan
name: Kettunen, Johannes
name: Kilpeläinen, Elina
name: Kilpi, Terhi
name: Klinger, Katherine
name: Kosma, Veli-Matti
name: Kuopio, Teijo
name: Kurra, Venla
name: Laisk, Triin
name: Laukkanen, Jari
name: Lawless, Nathan
name: Liu, Aoxing
name: Longerich, Simonne
name: Mägi, Reedik
name: Mäkelä, Johanna
name: Mäkitie, Antti
name: Malarstig, Anders
name: Mannermaa, Arto
name: Maranville, Joseph
name: Matakidou, Athena
name: Meretoja, Tuomo
name: Mozaffari, Sahar V.
name: Niemi, Mari E. K.
name: Niemi, Marianna
name: Niiranen, Teemu
name: O´Donnell, Christopher J.
name: Obeidat, Ma´En
name: Okafo, George
name: Ollila, Hanna M.
name: Palomäki, Antti
name: Palotie, Tuula
name: Partanen, Jukka
name: Paul, Dirk S.
name: Pelkonen, Margit
name: Pendergrass, Rion K.
name: Petrovski, Slavé
name: Pitkäranta, Anne
name: Platt, Adam
name: Pulford, David
name: Punkka, Eero
name: Pussinen, Pirkko
name: Raghavan, Neha
name: Rahimov, Fedik
name: Rajpal, Deepak
name: Renaud, Nicole A.
name: Riley-Gillis, Bridget
name: Rodosthenous, Rodosthenis
name: Saarentaus, Elmo
name: Salminen, Aino
name: Salminen, Eveliina
name: Salomaa, Veikko
name: Schleutker, Johanna
name: Serpi, Raisa
name: Shen, Huei-Yi
name: Siegel, Richard
name: Silander, Kaisa
name: Siltanen, Sanna
name: Soini, Sirpa
name: Soininen, Hilkka
name: Sul, Jae Hoon
name: Tachmazidou, Ioanna
name: Tasanen, Kaisa
name: Tienari, Pentti
name: Toppila-Salmi, Sanna
name: Tukiainen, Taru
name: Tuomi, Tiinamaija
name: Turunen, Joni A.
name: Ulirsch, Jacob C.
name: Vaura, Felix
name: Virolainen, Petri
name: Waring, Jeffrey
name: Waterworth, Dawn
name: Yang, Robert
name: Nelis, Mari
name: Reigo, Anu
name: Metspalu, Andres
name: Milani, Lili
name: Esko, Tõnu
name: Fox, Caroline
name: Havulinna, Aki S.
name: Perola, Markus
name: Ripatti, Samuli
name: Jalanko, Anu
name: Laitinen, Tarja
name: Mäkelä, Tomi P.
name: Plenge, Robert
name: McCarthy, Mark
name: Runz, Heiko
name: Daly, Mark J.
name: Palotie, Aarno
Publisher: name: Apollo - University of Cambridge Repository
Year: 2023
Subjects: Article
/631/208/205/2138
/692/308/2056
/631/208/727/2000
/631/208/457/649/2219
/45/43
article

description: 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 &lt; 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 explored1, 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 &lt; 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 &lt;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.