QMUL's Largest Study on Genetics of Blood Proteins Uncovers Disease Mechanisms and Drug Targets

The Groundbreaking QMUL-Led Study on Blood Protein Genetics

Researchers at Queen Mary University of London (QMUL) have spearheaded the largest-ever study on the genetics of blood proteins, published in the prestigious journal Cell on May 6, 2026. This monumental effort, involving data from over 78,000 participants across 38 international cohorts, has illuminated previously unknown mechanisms behind common diseases and opened doors for drug repurposing. Led by Dr. Mine Koprulu, a Senior Postdoctoral Researcher in Multiomics at QMUL's Precision Health University Research Institute (PHURI), the study maps genetic variants—known as protein quantitative trait loci (pQTLs)—that influence blood protein levels, providing a molecular roadmap to human health and disease.

Blood proteins, or the proteome in plasma, serve as dynamic biomarkers reflecting physiological states. By integrating proteomics (protein measurement) with genomics (DNA analysis), the team identified more than 24,000 pQTLs, far surpassing previous efforts. This proteogenomic approach reveals how genes regulate proteins and how those proteins connect to diseases, a field gaining traction in UK higher education research hubs like QMUL.

Understanding Proteogenomics and pQTLs: A Step-by-Step Explanation

Proteogenomics combines proteome and genome data to pinpoint causal relationships. Protein quantitative trait loci (pQTLs) are genetic variants associated with protein abundance in blood. Here's how the study worked:

• Step 1: Sample Collection – Plasma samples from 78,664 individuals from diverse cohorts, primarily via the UK Biobank Pharma Proteomics Project (UKB-PPP) using Olink proteomics panels measuring thousands of proteins.
• Step 2: Genotyping – Genome-wide association studies (GWAS) to scan millions of DNA variants.
• Step 3: pQTL Mapping – Statistical analysis linking variants to protein levels, distinguishing cis-pQTLs (near the protein-coding gene) and trans-pQTLs (distant regulators).
• Step 4: Disease Integration – Overlaying pQTLs with GWAS data for over 1,000 diseases (diseasome) to find causal proteins.
• Step 5: Functional Annotation – Machine learning to identify pathways like N-linked glycosylation and cell types such as hepatocytes.

This rigorous methodology, refined at UK universities, sets a new standard for precision medicine research.

The SCALLOP Consortium: Collaborative Power in UK-Led Research

The Systematic and Combined AnaLysis of OLink Proteins (SCALLOP) consortium, with over 35 principal investigators from 28 institutions, drove this work. QMUL's PHURI played a pivotal role in multiomics integration. Building on UKB-PPP's 2023 study of 54,000 samples, this expanded effort triples the scale, showcasing UK higher education's leadership in biobanking and big data.

Prof. Claudia Langenberg, from QMUL, noted, “This study exemplifies the power of large-scale genetic studies to uncover new biology. By integrating proteomics with genomics, we can prioritise drug targets with greater confidence, potentially accelerating new therapies.” Such collaborations highlight opportunities for early-career researchers in UK genomics programs.

Key Discoveries: Over 24,000 pQTLs and Novel Biological Insights

The study uncovered 24,000+ pQTLs regulating the plasma proteome, revealing tissue-specific controls (e.g., liver for secreted proteins) and pathways like glycosylation affecting protein stability. Trans-pQTLs highlighted distant gene networks, enriching understanding of systemic regulation.

These findings extend prior UK research, such as UKB-PPP's identification of 14,000 associations, by scaling up and linking to the diseasome—genetic maps of 1,000+ diseases.

New Disease Mechanisms Unlocked by Blood Proteome Genetics

By colocalizing pQTLs with disease GWAS, researchers pinpointed causal proteins. For rheumatoid arthritis (RA), genetic signals converged on TYK2 pathways. Osteoarthritis showed novel protein mediators, while Alzheimer's and cardiovascular diseases revealed unexpected links via inflammatory proteins.

Dr. Koprulu explained, “We are at a point where scalable measurements are possible at all layers of biology. This study generates a map of genetic effects on blood proteins, identifying new mechanisms for common diseases.” This advances UK efforts in chronic disease research at institutions like QMUL and Edinburgh.

Drug Repurposing Opportunities from the QMUL Study

A highlight is repurposing: TYK2 inhibitors, approved for psoriasis, showed strong evidence for RA via multiple pQTL-disease colocalizations and prior safety data. Plasma furin emerged as a potential target for metabolic disorders. The study supports 10+ candidates, reducing development time from 10-15 years.

Link to the full paper for details: Multi-cohort proteogenomic analyses in Cell. This aligns with UK initiatives like the Accelerated Access Collaborative.

QMUL's Precision Health URI: Hub for UK Proteogenomics Innovation

QMUL's PHURI integrates multiomics for precision health, hosting talents like Dr. Koprulu. The study underscores QMUL's genomics prowess, building on Barts Liver Centre and preventative medicine programs. UK universities like Cambridge and Oxford contribute via UKB, fostering interdisciplinary PhD opportunities.

Implications for UK Higher Education and Medical Research

This research bolsters UK's genomics ecosystem, from UKB to NIHR funding. It promises faster therapies, reducing NHS burden on RA (1.5M patients) and osteoarthritis (9M). Universities gain from data resources, spurring spin-outs and jobs in bioinformatics.

Read more on QMUL's announcement: QMUL press release.

Career Pathways in Blood Proteomics and Genomics at UK Universities

UK higher ed offers roles in pQTL analysis: postdoctoral positions at QMUL, lectureships in genomics at Edinburgh. Skills in R, GWAS tools like PLINK, proteomics (Olink) are key. Explore UK Biobank for training. With 20% growth in biotech jobs, it's ideal for PhDs.

Photo by Sangharsh Lohakare on Unsplash

• Postdoc salaries: £40k-£50k.
• Lecturer: £50k+.
• Key unis: QMUL, Cambridge, Manchester.

Future Outlook: Transforming UK Precision Medicine Landscape

Upcoming UKB full proteomics release (500k samples) will amplify findings. Expect trials for repurposed drugs by 2028. UK universities must invest in compute infrastructure and diverse cohorts to sustain leadership, addressing ethnic biases in pQTLs.

This QMUL study positions UK higher ed as global leader, promising healthier futures through genetics of blood proteins.