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

E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
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 …

[HTML][HTML] Connecting genetic risk to disease end points through the human blood plasma proteome

K Suhre, M Arnold, AM Bhagwat, RJ Cotton… - Nature …, 2017 - nature.com
Genome-wide association studies (GWAS) with intermediate phenotypes, like changes in
metabolite and protein levels, provide functional evidence to map disease associations and …

Genetics meets proteomics: perspectives for large population-based studies

K Suhre, MI McCarthy, JM Schwenk - Nature Reviews Genetics, 2021 - nature.com
Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the
complex processes influencing human biology. Proteins represent intermediate phenotypes …

[HTML][HTML] A genome-wide association study of serum proteins reveals shared loci with common diseases

A Gudjonsson, V Gudmundsdottir, GT Axelsson… - Nature …, 2022 - nature.com
With the growing number of genetic association studies, the genotype-phenotype atlas has
become increasingly more complex, yet the functional consequences of most disease …

Genomic atlas of the human plasma proteome

BB Sun, JC Maranville, JE Peters, D Stacey, JR Staley… - Nature, 2018 - nature.com
Although plasma proteins have important roles in biological processes and are the direct
targets of many drugs, the genetic factors that control inter-individual variation in plasma …

Identification of cis-regulatory variation influencing protein abundance levels in human plasma

A Lourdusamy, S Newhouse, K Lunnon… - Human molecular …, 2012 - academic.oup.com
Proteins are central to almost all cellular processes, and dysregulation of expression and
function is associated with a range of disorders. A number of studies in human have recently …

[HTML][HTML] Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

[HTML][HTML] Large-scale plasma proteomics comparisons through genetics and disease associations

GH Eldjarn, E Ferkingstad, SH Lund, H Helgason… - Nature, 2023 - nature.com
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 …

[HTML][HTML] Rare variant associations with plasma protein levels in the UK Biobank

RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska… - Nature, 2023 - nature.com
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …

Mapping the proteo-genomic convergence of human diseases

M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …