Article
Large-scale integration of the plasma proteome with genetics and disease.
Nature genetics - 1 Dec 2021
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
Abstract excerpt
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...
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