Opin vísindi

Large-scale plasma proteomics comparisons through genetics and disease associations

Large-scale plasma proteomics comparisons through genetics and disease associations

Title: Large-scale plasma proteomics comparisons through genetics and disease associations
Author: Eldjarn, Grimur Hjorleifsson
Ferkingstad, Egil   orcid.org/0000-0001-8090-7988
Lund, Sigrun H.
Helgason, Hannes
Magnusson, Olafur Th
Gunnarsdottir, Kristbjorg
Olafsdottir, Thorunn A.
Halldorsson, Bjarni V.
Olason, Pall I.
Zink, Florian
... 23 more authors Show all authors
Date: 2023-10-04
Language: English
Scope: 11
University/Institute: Reykjavik University
School: Health Sciences
Department: Faculty of Physical Sciences
Faculty of Sociology, Anthropology and Folkloristics
Faculty of Industrial Engineering, Mechanical Engineering and Computer Science
Faculty of Medicine
Other departments
Faculty of Electrical and Computer Engineering
Series: Nature; 622(7982)
ISSN: 0028-0836
DOI: 10.1038/s41586-023-06563-x
Subject: Gigtarlæknisfræði; Africa/ethnology; Asia, Southern/ethnology; Biological Specimen Banks; Blood Proteins/analysis; Datasets as Topic; Disease Susceptibility; Genome, Human/genetics; Genomics; Genotype; Humans; Iceland/ethnology; Ireland/ethnology; Phenotype; Plasma/chemistry; Proteome/analysis; Proteomics/methods; Quantitative Trait Loci; United Kingdom; Multidisciplinary
URI: https://hdl.handle.net/20.500.11815/4547

Show full item record


Eldjarn , G H , Ferkingstad , E , Lund , S H , Helgason , H , Magnusson , O T , Gunnarsdottir , K , Olafsdottir , T A , Halldorsson , B V , Olason , P I , Zink , F , Gudjonsson , S A , Sveinbjornsson , G , Magnusson , M I , Helgason , A , Oddsson , A , Halldorsson , G H , Magnusson , M K , Sævarsdóttir , S , Eiriksdottir , T , Masson , G , Stefansson , H , Jonsdottir , I , Holm , H , Rafnar , T , Melsted , P , Saemundsdottir , J , Norddahl , G L , Thorleifsson , G , Ulfarsson , M O , Gudbjartsson , D F , Thorsteinsdottir , U , Sulem , P & Stefansson , K 2023 , ' Large-scale plasma proteomics comparisons through genetics and disease associations ' , Nature , vol. 622 , no. 7982 , pp. 348-358 . https://doi.org/10.1038/s41586-023-06563-x


High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore 3072 data generated by the UK Biobank Pharma Proteomics Project 1 on plasma samples from more than 50,000 UK Biobank participants with phenotypic and genotypic data, stratifying on British or Irish, African and South Asian ancestries. We compared the results with those of a SomaScan v4 study on plasma from 36,000 Icelandic people 2, for 1,514 of whom Olink data were also available. We found modest correlation between the two platforms. Although cis protein quantitative trait loci were detected for a similar absolute number of assays on the two platforms (2,101 on Olink versus 2,120 on SomaScan), the proportion of assays with such supporting evidence for assay performance was higher on the Olink platform (72% versus 43%). A considerable number of proteins had genomic associations that differed between the platforms. We provide examples where differences between platforms may influence conclusions drawn from the integration of protein levels with the study of diseases. We demonstrate how leveraging the diverse ancestries of participants in the UK Biobank helps to detect novel associations and refine genomic location. Our results show the value of the information provided by the two most commonly used high-throughput proteomics platforms and demonstrate the differences between them that at times provides useful complementarity.


Publisher Copyright: © 2023, The Author(s).

Files in this item

This item appears in the following Collection(s)