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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
By
Andrea Ganna,
Kyle F Satterstrom,
Seyedeh M. Zekavat,
Indraniel Das,
Mitja I. Kurki,
Claire Churchhouse,
Jessica Alfoldi,
Alicia R Martin,
Aki S Havulinna,
Andrea Byrnes,
Wesley K Thompson,
Philip R. Nielsen,
Konrad J. Karczewski,
Elmo Saarentaus,
Manuel A Rivas,
Namrata Gupta,
Olli Pietiläinen,
Connor A Emdin,
Francesco Lescai,
Jonas Bybjerg-Grauholm,
Jason Flannick,
on behalf of GoT2D/T2D-GENES consortium,
Josep Mercader,
Miriam Udler,
on behalf of SIGMA consortium, Helmsley IBD Exome Sequencing Project, FinMetSeq Consortium, iPSYCH-Broad Consortium,
Markku Laakso,
Veikko Salomaa,
Christina Hultman,
Samuli Ripatti,
Eija Hämäläinen,
Jukka S. Moilanen,
Jarmo Körkkö,
Outi Kuismin,
Merete Nordentoft,
David M Hougaard,
Ole Mors,
Thomas Werge,
Preben Bo Mortensen,
Daniel MacArthur,
Mark J. Daly,
Patrick F Sullivan,
Adam E. Locke,
Aarno Palotie,
Anders D. Børglum,
Sekar Kathiresan,
Benjamin M Neale
Posted 09 Jun 2017
bioRxiv DOI: 10.1101/148247
(published DOI: 10.1016/j.ajhg.2018.05.002)
There is a limited understanding about the impact of rare protein truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals. Protein truncating variants in genes intolerant to this class of mutations increased risk of autism, schizophrenia, bipolar disorder, intellectual disability, ADHD. In individuals without these disorders, there was an association with shorter height, lower education, increased hospitalization and reduced age. Gene sets implicated from GWAS did not show a significant protein truncating variants-burden beyond what captured by established Mendelian genes. In conclusion, we provide the most thorough investigation to date of the impact of rare deleterious coding variants on complex traits, suggesting widespread pleiotropic risk.
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