| Autor: |
FinnGen, Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Hiltunen, Mikko, Aalto-Setälä, Katriina, Bizaki-Vallaskangas, Argyro, Kähönen, Mika, Kosma, Veli Matti, Kurra, Venla, Mäkelä, Johanna, Mannermaa, Arto, Niemi, Mari E.K., Niemi, Marianna, Partanen, Jukka, Salminen, Aino, Schleutker, Johanna, Siltanen, Sanna, Toppila-Salmi, Sanna, Laitinen, Tarja |
| Přispěvatelé: |
Tampere University, Clinical Medicine, Department of Gynaecology and Obstetrics, Computing Sciences, BioMediTech, Department of Clinical Physiology and Nuclear Medicine, Tays Research Services, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, HUS Gynecology and Obstetrics, Department of Medical and Clinical Genetics, Medicum, HUSLAB, Bio Bank, HUS Helsinki and Uusimaa Hospital District, Faculty Common Matters (Faculty of Medicine), Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Popis: |
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 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 –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 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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