Genetics meets proteomics: perspectives for large population-based studies

doi:10.1038/s41576-020-0268-2

Review

. 2021 Jan;22(1):19-37.

doi: 10.1038/s41576-020-0268-2. Epub 2020 Aug 28.

Genetics meets proteomics: perspectives for large population-based studies

Karsten Suhre¹, Mark I McCarthy^{2

3

4

5}, Jochen M Schwenk⁶

Affiliations

¹ Department of Biophysics and Physiology, Weill Cornell Medicine-Qatar, Doha, Qatar. kas2049@qatar-med.cornell.edu.
² Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK.
³ Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
⁴ Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
⁵ Genentech, South San Francisco, CA, USA.
⁶ Affinity Proteomics, Science for Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden. jochen.schwenk@scilifelab.se.

PMID: 32860016
DOI: 10.1038/s41576-020-0268-2

Review

Genetics meets proteomics: perspectives for large population-based studies

Karsten Suhre et al. Nat Rev Genet. 2021 Jan.

. 2021 Jan;22(1):19-37.

doi: 10.1038/s41576-020-0268-2. Epub 2020 Aug 28.

Authors

Karsten Suhre¹, Mark I McCarthy^{2

3

4

5}, Jochen M Schwenk⁶

Affiliations

¹ Department of Biophysics and Physiology, Weill Cornell Medicine-Qatar, Doha, Qatar. kas2049@qatar-med.cornell.edu.
² Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK.
³ Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
⁴ Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
⁵ Genentech, South San Francisco, CA, USA.
⁶ Affinity Proteomics, Science for Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden. jochen.schwenk@scilifelab.se.

PMID: 32860016
DOI: 10.1038/s41576-020-0268-2

Abstract

Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the complex processes influencing human biology. Proteins represent intermediate phenotypes for disease and provide insight into how genetic and non-genetic risk factors are mechanistically linked to clinical outcomes. Associations between protein levels and DNA sequence variants that colocalize with risk alleles for common diseases can expose disease-associated pathways, revealing novel drug targets and translational biomarkers. However, genome-wide, population-scale analyses of proteomic data are only now emerging. Here, we review current findings from studies of the plasma proteome and discuss their potential for advancing biomedical translation through the interpretation of genome-wide association analyses. We highlight the challenges faced by currently available technologies and provide perspectives relevant to their future application in large-scale biobank studies.

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References

1. MacArthur, J. et al. The new NHGRI-EBI catalog of published genome-wide association studies (GWAS catalog). Nucleic Acids Res. 45, D896–D901 (2017). - PubMed
1. Lonsdale, J. et al. The genotype-tissue expression (GTEx) project. Nat. Genet. 45, 580–585 (2013).
1. Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54–60 (2011). - PubMed
1. Kastenmuller, G., Raffler, J., Gieger, C. & Suhre, K. Genetics of human metabolism: an update. Hum. Mol. Genet. 24, R93–R101 (2015). - PubMed - PMC
1. Anderson, N. L. & Anderson, N. G. The human plasma proteome: history, character, and diagnostic prospects. Mol. Cell. Proteomics 1, 845–867 (2002). - PubMed

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[1] MacArthur, J. et al. The new NHGRI-EBI catalog of published genome-wide association studies (GWAS catalog). Nucleic Acids Res. 45, D896–D901 (2017). - PubMed

[2] MacArthur, J. et al. The new NHGRI-EBI catalog of published genome-wide association studies (GWAS catalog). Nucleic Acids Res. 45, D896–D901 (2017). - PubMed

[3] Lonsdale, J. et al. The genotype-tissue expression (GTEx) project. Nat. Genet. 45, 580–585 (2013).

[4] Lonsdale, J. et al. The genotype-tissue expression (GTEx) project. Nat. Genet. 45, 580–585 (2013).

[5] Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54–60 (2011). - PubMed

[6] Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54–60 (2011). - PubMed

[7] Kastenmuller, G., Raffler, J., Gieger, C. & Suhre, K. Genetics of human metabolism: an update. Hum. Mol. Genet. 24, R93–R101 (2015). - PubMed - PMC

[8] Kastenmuller, G., Raffler, J., Gieger, C. & Suhre, K. Genetics of human metabolism: an update. Hum. Mol. Genet. 24, R93–R101 (2015). - PubMed - PMC

[9] Anderson, N. L. & Anderson, N. G. The human plasma proteome: history, character, and diagnostic prospects. Mol. Cell. Proteomics 1, 845–867 (2002). - PubMed

[10] Anderson, N. L. & Anderson, N. G. The human plasma proteome: history, character, and diagnostic prospects. Mol. Cell. Proteomics 1, 845–867 (2002). - PubMed

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Genetics meets proteomics: perspectives for large population-based studies

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Genetics meets proteomics: perspectives for large population-based studies

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