Large-scale integration of the plasma proteome with genetics and disease

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 (p...

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Veröffentlicht in:	NATURE GENETICS 2021-12, Vol.53 (12), p.1712-1721
Hauptverfasser:	Ferkingstad, Egil, Sulem, Patrick, Atlason, Bjarni A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Styrmisdottir, Edda L., Gunnarsdottir, Kristbjorg, Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Bjarni V., Jensson, Brynjar O., Zink, Florian, Halldorsson, Gisli H., Masson, Gisli, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Juliusson, Kristinn, Magnusson, Magnus K., Magnusson, Olafur Th, Fridriksdottir, Run, Saevarsdottir, Saedis, Gudjonsson, Sigurjon A., Stacey, Simon N., Rognvaldsson, Solvi, Eiriksdottir, Thjodbjorg, Olafsdottir, Thorunn A., Steinthorsdottir, Valgerdur, Tragante, Vinicius, Ulfarsson, Magnus O., Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Lund, Sigrun H., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Stefansson, Kari
Format:	Artikel
Sprache:	eng
Schlagworte:	45/23 45/43 45/91 631/114/2784 631/208/205/2138 692/308/2056 82/47 82/79 82/80 Agriculture Animal Genetics and Genomics Aptamers Biomarkers Biomarkers - blood Biomedical and Life Sciences Biomedicine Blood Proteins - genetics Blood Proteins - metabolism Cancer Research Disease Disease - genetics Female Gene expression Gene Frequency Gene Function Genetic Variation Genetics Genome-Wide Association Study Genomes Genomics Human Genetics Humans Male Middle Aged Pathogenesis Plasma Plasma proteins Proteins Proteome - genetics Proteomes Quantitative Trait Loci
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Beschreibung
Zusammenfassung:	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)
ISSN:	1061-4036 1546-1718
DOI:	10.1038/s41588-021-00978-w