| Literature DB >> 34857953 |
Egil Ferkingstad1, Patrick Sulem2, Bjarni A Atlason1, Gardar Sveinbjornsson1, Magnus I Magnusson1, Edda L Styrmisdottir1, Kristbjorg Gunnarsdottir1, Agnar Helgason1,3, Asmundur Oddsson1, Bjarni V Halldorsson1,4, Brynjar O Jensson1, Florian Zink1, Gisli H Halldorsson1, Gisli Masson1, Gudny A Arnadottir1, Hildigunnur Katrinardottir1, Kristinn Juliusson1, Magnus K Magnusson1,5, Olafur Th Magnusson1, Run Fridriksdottir1, Saedis Saevarsdottir1,5, Sigurjon A Gudjonsson1, Simon N Stacey1, Solvi Rognvaldsson1, Thjodbjorg Eiriksdottir1, Thorunn A Olafsdottir1,5, Valgerdur Steinthorsdottir1, Vinicius Tragante1, Magnus O Ulfarsson1,6, Hreinn Stefansson1, Ingileif Jonsdottir1,5, Hilma Holm1, Thorunn Rafnar1, Pall Melsted1,7, Jona Saemundsdottir1, Gudmundur L Norddahl1, Sigrun H Lund1, Daniel F Gudbjartsson1,7, Unnur Thorsteinsdottir1,5, Kari Stefansson8,9.
Abstract
The plasma proteome can help bridge the gap between the genome and diseases. Here we describe genome-wide association studies (GWASs) of plasma protein levels measured with 4,907 aptamers in 35,559 Icelanders. We found 18,084 associations between sequence variants and levels of proteins in plasma (protein quantitative trait loci; pQTL), of which 19% were with rare variants (minor allele frequency (MAF) < 1%). We tested plasma protein levels for association with 373 diseases and other traits and identified 257,490 associations. We integrated pQTL and genetic associations with diseases and other traits and found that 12% of 45,334 lead associations in the GWAS Catalog are with variants in high linkage disequilibrium with pQTL. We identified 938 genes encoding potential drug targets with variants that influence levels of possible biomarkers. Combining proteomics, genomics and transcriptomics, we provide a valuable resource that can be used to improve understanding of disease pathogenesis and to assist with drug discovery and development.Entities:
Mesh：
Substances：
Year: 2021 PMID： 34857953 DOI： 10.1038/s41588-021-00978-w
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330