Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

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Kurki , M I , Saarentaus , E C , Pietiläinen , O , Gormley , P , Lal , D , Kerminen , S , Torniainen-Holm , M , Hämäläinen , E , Rahikkala , E , Keski-Filppula , R , Rauhala , M , Korpi-Heikkila , S , Komulainen-Ebrahim , J , Helander , H , Vieira , P , Männikkö , M , Peltonen , M , Havulinna , A , Salomaa , V , Pirinen , M , Suvisaari , J , Moilanen , J S , Körkkö , J , Kuismin , O , Daly , M & Palotie , A 2019 , ' Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland ' , Nature Communications , vol. 10 , no. 1 , 410 . https://doi.org/10.1038/s41467-018-08262-y

Title: Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Author: Kurki, Mitja I.; Saarentaus, Elmo Christian; Pietiläinen, Olli; Gormley, Padraigh; Lal, Dennis; Kerminen, Sini; Torniainen-Holm, Minna; Hämäläinen, Eija; Rahikkala, Elisa; Keski-Filppula, Riikka; Rauhala, Merja; Korpi-Heikkila, Satu; Komulainen-Ebrahim, Jonna; Helander, Heli; Vieira, Päivi; Männikkö, Minna; Peltonen, Markku; Havulinna, Aki; Salomaa, Veikko; Pirinen, Matti; Suvisaari, Jaana; Moilanen, Jukka S.; Körkkö, Jarmo; Kuismin, Outi; Daly, Mark; Palotie, Aarno
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Staff Services
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Centre of Excellence in Complex Disease Genetics
Date: 2019-01-24
Number of pages: 15
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/307310
Abstract: The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland. Using exome sequencing, we show that rare damaging variants in known ID genes are observed significantly more often in severe (27%) than in mild ID (13%) patients. We further observe a significant enrichment of functional variants in genes not yet associated with ID (OR: 2.1). We show that a common variant polygenic risk significantly contributes to ID. The heritability explained by polygenic risk score is the highest for educational attainment (EDU) in mild ID (2.2%) but lower for more severe ID (0.6%). Finally, we identify a Finland enriched homozygote variant in the CRADD ID associated gene.
Subject: CARDIOVASCULAR RISK-FACTORS
DE-NOVO MUTATIONS
DISORDERS
ELEMENTS
GENETICS
GENOME-WIDE ASSOCIATION
METAANALYSIS
PATTERNS
SCHIZOPHRENIA
TRENDS
3111 Biomedicine
1184 Genetics, developmental biology, physiology
3124 Neurology and psychiatry
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