Exome sequencing of Finnish isolates enhances rare-variant association power

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FinnGen Project , Locke , A E , Havulinna , A S , Pirinen , M , Eriksson , J G , Ala-Korpela , M , Järvelin , M-R , Männikkö , M , Laivuori , H , Palotie , A , Salomaa , V , Laakso , M & Ripatti , S 2019 , ' Exome sequencing of Finnish isolates enhances rare-variant association power ' , Nature , vol. 572 , no. 7769 , pp. 323–+ . https://doi.org/10.1038/s41586-019-1457-z

Title: Exome sequencing of Finnish isolates enhances rare-variant association power
Author: FinnGen Project; Locke, Adam E.; Havulinna, Aki S.; Pirinen, Matti; Eriksson, Johan G.; Ala-Korpela, Mika; Järvelin, Marjo-Riitta; Männikkö, Minna; Laivuori, Hannele; Palotie, Aarno; Salomaa, Veikko; Laakso, Markku; Ripatti, Samuli
Other contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Research Programs Unit
University of Helsinki, Genomics of Neurological and Neuropsychiatric Disorders
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Centre of Excellence in Complex Disease Genetics


















Date: 2019-08-15
Language: eng
Number of pages: 21
Belongs to series: Nature
ISSN: 0028-0836
DOI: https://doi.org/10.1038/s41586-019-1457-z
URI: http://hdl.handle.net/10138/327721
Abstract: Exome-sequencing studies have generally been underpowered to identify deleterious alleles with a large effect on complex traits as such alleles are mostly rare. Because the population of northern and eastern Finland has expanded considerably and in isolation following a series of bottlenecks, individuals of these populations have numerous deleterious alleles at a relatively high frequency. Here, using exome sequencing of nearly 20,000 individuals from these regions, we investigate the role of rare coding variants in clinically relevant quantitative cardiometabolic traits. Exome-wide association studies for 64 quantitative traits identified 26 newly associated deleterious alleles. Of these 26 alleles, 19 are either unique to or more than 20 times more frequent in Finnish individuals than in other Europeans and show geographical clustering comparable to Mendelian disease mutations that are characteristic of the Finnish population. We estimate that sequencing studies of populations without this unique history would require hundreds of thousands to millions of participants to achieve comparable association power.
Subject: GENOME-WIDE ASSOCIATION
LOW-FREQUENCY
MISSING HERITABILITY
CARDIOVASCULAR RISK
BLOOD-PRESSURE
DISEASE
TRAITS
CHOLESTEROL
POPULATION
PREDICTION
3142 Public health care science, environmental and occupational health
111 Mathematics
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