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Author

A. Butterworth

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#gene editing Open access Sep 2026

Human genetics implicates a BACH2-NRF2 axis in fetal haemoglobin activation.

Human genetic studies have identified key regulators of fetal haemoglobin (HbF) expression, including BCL11A, resulting in therapeutic advances1-8. Yet the mechanisms by which HbF expression is activated remain incompletely understood9. Here we conduct a large multi-ancestry genome-wide association study of HbF levels...

Chun-Jie Guo, U. Arora, Xiao-Heng Cheng et al. · 0 citations
Open access Aug 2026

A proteome-wide association study of cardiovascular diseases in 640,000 participants of multiple ancestries

Proteomics holds great promise for identifying potentially druggable effectors of common diseases, yet its application at population-scale across diverse ancestries, remains challenging. Here, we developed genetic imputation models for 2,594 plasma proteins using proteomic and genetic data from 54,219 UK Biobank partic...

Yu Xu, Douglas P. Loesch, H. Taylor et al. · 0 citations
Open access Jul 2026

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

Circulating plasma proteins are key biomarkers and therapeutic targets, now measurable at scale through high-throughput technologies, yet whether expanding proteomics platforms beyond the classical plasma secretome enhances genetic discovery and causal inference remains poorly understood. Here, we use an expanded SomaS...

S. Cadiou, E. Konig, A. Mapelli et al. · 0 citations
Open access Aug 2026

Liver fat accumulation contributes to discordant genetic risk between coronary artery disease and type 2 diabetes

Background. Type 2 diabetes (T2D) and coronary artery disease (CAD) frequently co-occur, yet the biological pathways that jointly determine risk remain incompletely understood. Most genetic studies have examined shared risk from a single-disease perspective, limiting insight into the mechanisms that generate discordant...

X. Jiang, N. Hirschmüller, H. Taylor et al. · 0 citations

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