FinnGen provides genetic insights from a well-phenotyped isolated population
Mitja I Kurki
1, 2, 3, 4
,
Juha Karjalainen
1, 2, 3, 4
,
Priit Palta
1, 5
,
Timo P. Sipilä
1
,
Kati Kristiansson
6
,
Kati M Donner
1
,
Mary P. Reeve
1
,
Hannele Laivuori
1, 7, 8, 9
,
Mervi Aavikko
1
,
Mari A. Kaunisto
1
,
Anu Loukola
10
,
Elisa Lahtela
1
,
Hannele Mattsson
6
,
Päivi Laiho
6
,
Pietro Della Briotta Parolo
1
,
Arto A. Lehisto
1
,
Masahiro Kanai
1, 2, 3, 4, 11
,
Nina Mars
1
,
Joel Rämö
1
,
Tuomo Kiiskinen
1
,
Henrike O. Heyne
1, 2, 3, 12, 13
,
Kumar Veerapen
1, 2, 3, 4
,
Sina Rüeger
1
,
Susanna Lemmelä
1, 6
,
Wei Zhou
2, 3, 4
,
Sanni Ruotsalainen
1
,
Kalle Pärn
1
,
Tero Hiekkalinna
6
,
Sami Koskelainen
6
,
Teemu Paajanen
6
,
Vincent Llorens
1
,
Javier Gracia-Tabuenca
14
,
Harri Siirtola
14
,
Kadri Reis
5
,
Abdelrahman G. Elnahas
5
,
Benjamin Sun
15, 16
,
Christopher N. Foley
17, 18
,
Katriina Aalto-Setälä
19
,
Kaur Alasoo
20
,
Mikko Arvas
21
,
Kirsi Auro
22
,
Shameek Biswas
23
,
Argyro Bizaki-Vallaskangas
24
,
Olli Carpe´n
10
,
Chen Chia-Yen
25
,
Oluwaseun A. Dada
1
,
Zhihao Ding
26
,
Margaret G. Ehm
27
,
Kari Eklund
28, 29
,
Martti Färkkilä
30
,
HILARY FINUCANE
2, 3, 4
,
Andrea Ganna
1, 2, 3, 4
,
Awaisa Ghazal
1
,
Robert R. Graham
31
,
Eric M. Green
31
,
Antti Hakanen
32
,
Marco Hautalahti
33
,
Åsa K. Hedman
34, 35
,
Mikko Hiltunen
36
,
Reetta Hinttala
37, 38, 39
,
Iiris Hovatta
40, 41
,
Xinli Hu
34
,
Adriana Huertas-Vazquez
42
,
Laura Huilaja
43, 44
,
Julie Hunkapiller
45
,
Howard Jacob
46
,
Jan-Nygaard Jensen
26
,
Heikki Joensuu
47
,
Sally John
25
,
Valtteri Julkunen
48, 49
,
Marc Jung
26
,
Juhani Junttila
50
,
Kai Kaarniranta
51, 52
,
Mika Kähönen
19, 53
,
Risto Kajanne
1
,
Lila Kallio
32
,
Reetta Kälviäinen
54, 55
,
Jaakko Kaprio
1, 56
,
Nurlan Kerimov
20
,
Johannes Kettunen
6, 38, 57
,
Elina Kilpeläinen
1
,
TERHI KILPI
6
,
Katherine Klinger
58
,
Veli-Matti Kosma
59, 60
,
Teijo Kuopio
61
,
Venla Kurra
62, 63
,
Triin Laisk
5
,
Jari Laukkanen
61, 64
,
Nathan Lawless
26
,
Aoxing Liu
1
,
Simonne Longerich
42
,
Reedik Mägi
5
,
Johanna Mäkelä
65
,
Antti Mäkitie
66, 67
,
Anders Malarstig
68, 69
,
Mannermaa Arto
59, 60
,
Joseph Maranville
23
,
Athena Matakidou
70
,
Tuomo Meretoja
47
,
Sahar V. Mozaffari
31
,
Mari E. K. Niemi
1
,
Marianna Niemi
19, 71
,
Teemu Niiranen
6, 72
,
Christopher J. O'Donnell
73
,
Ma’en Obeidat
73
,
George Okafo
26
,
Hanna M. Ollila
1, 74
,
Antti Palomäki
72
,
Tuula Palotie
75, 76
,
Partanen Jukka
21, 77
,
Dirk S. Paul
70
,
Margit Pelkonen
78
,
Rion K. Pendergrass
45
,
Slavé Petrovski
70
,
Anne Pitkäranta
79
,
Adam Platt
80
,
David Pulford
81
,
Eero Punkka
10
,
Pirkko Pussinen
76
,
Neha Raghavan
42
,
Fedik Rahimov
46
,
Deepak Rajpal
58
,
Nicole A. Renaud
73
,
Bridget Riley-Gillis
46
,
Rodosthenis Rodosthenous
1
,
Elmo Saarentaus
1
,
Aino Salminen
76
,
Eveliina Salminen
67, 82
,
Veikko Salomaa
6
,
Johanna Schleutker
32
,
Raisa Serpi
50
,
Huei-yi Shen
1
,
Richard Siegel
83
,
Kaisa Silander
6
,
Sanna Siltanen
84
,
Sirpa Soini
6
,
Soininen Hilkka
85
,
Jae Hoon Sul
42
,
Ioanna Tachmazidou
70
,
Kaisa Tasanen
43, 44
,
Pentti Tienari
86, 87
,
Sanna Toppila-Salmi
88
,
Taru Tukiainen
1
,
Tiinamaija Tuomi
1, 89, 90, 91
,
Joni A. Turunen
47, 92
,
Jacob C. Ulirsch
2, 3
,
Felix Vaura
6, 93
,
PETRI VIROLAINEN
32
,
Jeffrey Waring
46
,
Dawn Waterworth
94
,
Robert Yang
95
,
Mari Nelis
96
,
Anu Reigo
5
,
Andres Metspalu
5
,
Lili Milani
5
,
Tõnu Esko
5
,
Caroline Fox
42
,
Aki S Havulinna
1, 6
,
Markus Perola
6
,
Samuli Ripatti
1
,
Anu Jalanko
1
,
Tarja Laitinen
84
,
Tomi P. Mäkelä
97
,
Robert Plenge
23
,
Mark McCarthy
45
,
Heiko Runz
25
,
Mark J. Daly
1, 2, 3, 4
,
A. Palotie
1, 2, 3, 4
1
12
15
Translational Biology, Research and Development, Biogen, Cambridge, USA
|
17
Optima Partners, Edinburgh, UK
|
21
Finnish Red Cross Blood service, Helsinki, Finland
|
22
GlaxoSmithKline, Espoo, Finland
|
25
Biogen, Cambridge, USA
|
27
GlaxoSmithKline, Collegeville, USA
|
29
Orton Orthopedic Hospital, Helsinki, Finland
|
31
Maze Therapeutics, South San Francisco, USA
|
33
FINBB, Finnish Biobank Cooperative, Helsinki, Finland
|
34
Pfizer, New York, USA
|
42
Merck & Co, Kenilworth, USA
|
44
45
Genentech, San Francisco, USA
|
46
Abbvie, Chicago, USA
|
58
Translational Sciences, Sanofi R&D, Framingham, USA
|
61
Central Finland Biobank, Central Finland Health Care District, Jyväskylä, Finland
|
63
Department of Clinical Genetics, Faculty of Medicine and Health Technology, Tampere, Finland
|
65
FINBB, Finnish Biobank Cooperative, Turku, Finland
|
66
68
Pfizer, Cambridge, USA
|
70
73
Novartis Institutes for BioMedical Research, Cambridge, USA
|
77
Finnish Hematological Biobank, Helsinki, Finland
|
83
Novartis Institutes For BioMedical Research, Basel, Switzerland
|
88
91
94
Janssen Research & Development, Spring House, USA
|
95
Janssen Biotech, Beerse, Belgium
|
Publication type: Journal Article
Publication date: 2023-01-18
scimago Q1
wos Q1
SJR: 18.288
CiteScore: 78.1
Impact factor: 48.5
ISSN: 00280836, 14764687
PubMed ID:
36653562
Multidisciplinary
Abstract
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 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 < 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. I. et al. FinnGen provides genetic insights from a well-phenotyped isolated population // Nature. 2023. Vol. 613. No. 7944. pp. 508-518.
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Kurki M. I. et al. FinnGen provides genetic insights from a well-phenotyped isolated population // Nature. 2023. Vol. 613. No. 7944. pp. 508-518.
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@article{2023_Kurki,
author = {Mitja I Kurki and Juha Karjalainen and Priit Palta and Timo P. Sipilä and Kati Kristiansson and Kati M Donner and Mary P. Reeve and Hannele Laivuori and Mervi Aavikko and Mari A. Kaunisto and Anu Loukola and Elisa Lahtela and Hannele Mattsson and Päivi Laiho and Pietro Della Briotta Parolo and Arto A. Lehisto and Masahiro Kanai and Nina Mars and Joel Rämö and Tuomo Kiiskinen and Henrike O. Heyne and Kumar Veerapen and Sina Rüeger and Susanna Lemmelä and Wei Zhou and Sanni Ruotsalainen and Kalle Pärn and Tero Hiekkalinna and Sami Koskelainen and Teemu Paajanen and Vincent Llorens and Javier Gracia-Tabuenca and Harri Siirtola and Kadri Reis and Abdelrahman G. Elnahas and Benjamin Sun and Christopher N. Foley and Katriina Aalto-Setälä and Kaur Alasoo and Mikko Arvas and Kirsi Auro and Shameek Biswas and Argyro Bizaki-Vallaskangas and Olli Carpe´n and Chen Chia-Yen and Oluwaseun A. Dada and Zhihao Ding and Margaret G. Ehm and Kari Eklund and Martti Färkkilä and others},
title = {FinnGen provides genetic insights from a well-phenotyped isolated population},
journal = {Nature},
year = {2023},
volume = {613},
publisher = {Springer Nature},
month = {jan},
url = {https://doi.org/10.1038/s41586-022-05473-8},
number = {7944},
pages = {508--518},
doi = {10.1038/s41586-022-05473-8}
}
Cite this
MLA
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Kurki, Mitja I., et al. “FinnGen provides genetic insights from a well-phenotyped isolated population.” Nature, vol. 613, no. 7944, Jan. 2023, pp. 508-518. https://doi.org/10.1038/s41586-022-05473-8.