Genetics of chronic respiratory disease

I Sayers, C John, J Chen, IP Hall - Nature Reviews Genetics, 2024 - nature.com
Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD),
asthma and interstitial lung diseases are frequently occurring disorders with a polygenic …

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 …

A terminal metabolite of niacin promotes vascular inflammation and contributes to cardiovascular disease risk

M Ferrell, Z Wang, JT Anderson, XS Li, M Witkowski… - Nature medicine, 2024 - nature.com
Despite intensive preventive cardiovascular disease (CVD) efforts, substantial residual CVD
risk remains even for individuals receiving all guideline-recommended interventions. Niacin …

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 …

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

G Bjornsdottir, MA Chalmer, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …

Plasma proteomic profiles predict future dementia in healthy adults

Y Guo, J You, Y Zhang, WS Liu, YY Huang, YR Zhang… - Nature Aging, 2024 - nature.com
The advent of proteomics offers an unprecedented opportunity to predict dementia onset.
We examined this in data from 52,645 adults without dementia in the UK Biobank, with 1,417 …

Plasma proteomic profiles predict individual future health risk

J You, Y Guo, Y Zhang, JJ Kang, LB Wang… - Nature …, 2023 - nature.com
Developing a single-domain assay to identify individuals at high risk of future events is a
priority for multi-disease and mortality prevention. By training a neural network, we …

Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder

CM Nievergelt, AX Maihofer, EG Atkinson, CY Chen… - Nature Genetics, 2024 - nature.com
Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability
than most other psychiatric disorders. The contribution to biological understanding from …

Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation

A Mälarstig, F Grassmann, L Dahl, M Dimitriou… - Nature …, 2023 - nature.com
Biomarkers for early detection of breast cancer may complement population screening
approaches to enable earlier and more precise treatment. The blood proteome is an …

High‐throughput molecular assays for inclusion in personalised oncology trials–State‐of‐the‐art and beyond

A Edsjö, HG Russnes, J Lehtiö… - Journal of internal …, 2024 - Wiley Online Library
In the last decades, the development of high‐throughput molecular assays has
revolutionised cancer diagnostics, paving the way for the concept of personalised cancer …