Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

SJ Jurgens, SH Choi, VN Morrill, M Chaffin… - Nature …, 2022 - nature.com
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …

Subclassification of obesity for precision prediction of cardiometabolic diseases

DE Coral, F Smit, A Farzaneh, A Gieswinkel, JF Tajes… - Nature medicine, 2024 - nature.com
Obesity and cardiometabolic disease often, but not always, coincide. Distinguishing
subpopulations within which cardiometabolic risk diverges from the risk expected for a given …

[HTML][HTML] Regulation of Mitochondria-Derived Immune Activation by 'Antiviral'TRIM Proteins

S Oh, MA Mandell - Viruses, 2024 - mdpi.com
Mitochondria are key orchestrators of antiviral responses that serve as platforms for the
assembly and activation of innate immune-signaling complexes. In response to viral …

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

J Ryu, S Barkal, T Yu, M Jankowiak, Y Zhou… - Nature Genetics, 2024 - nature.com
CRISPR base editing screens enable analysis of disease-associated variants at scale;
however, variable efficiency and precision confounds the assessment of variant-induced …

Loci for insulin processing and secretion provide insight into type 2 diabetes risk

KA Broadaway, X Yin, A Williamson, VA Parsons… - The American Journal of …, 2023 - cell.com
Insulin secretion is critical for glucose homeostasis, and increased levels of the precursor
proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin …

Emerging insights on the diverse roles of proprotein convertase subtilisin/kexin type 9 (PCSK9) in chronic liver diseases: Cholesterol metabolism and beyond

T Grewal, C Buechler - International Journal of Molecular Sciences, 2022 - mdpi.com
Chronic liver diseases are commonly associated with dysregulated cholesterol metabolism.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a serine protease of the proprotein …

Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes

L Li, Z Chen, M von Scheidt, S Li, A Steiner… - Basic research in …, 2022 - Springer
The majority of risk loci identified by genome-wide association studies (GWAS) are in non-
coding regions, hampering their functional interpretation. Instead, transcriptome-wide …

Integration of variant annotations using deep set networks boosts rare variant association testing

B Clarke, E Holtkamp, H Öztürk, M Mück, M Wahlberg… - Nature Genetics, 2024 - nature.com
Rare genetic variants can have strong effects on phenotypes, yet accounting for rare
variants in genetic analyses is statistically challenging due to the limited number of allele …

Relationship between remnant cholesterol and risk of heart failure in participants with diabetes mellitus

R Wang, HC Gerstein, HGC Van Spall… - … Journal-Quality of …, 2023 - academic.oup.com
Background Evidence about the association between calculated remnant cholesterol (RC)
and risk of heart failure (HF) in participants with diabetes mellitus (DM) remains sparse and …

A large study of metabolomics reveals common and distinct metabolic biomarkers for type 2 diabetes, coronary heart disease, and stroke

Y Lu, G Li, V Viallon, P Ferrari… - American Journal of …, 2024 - academic.oup.com
We aimed at examining the shared and unique associations of metabolites with multiple
cardiometabolic diseases, including type 2 diabetes (T2D), coronary heart disease (CHD) …