Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

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 …

Roles of Siglecs in neurodegenerative diseases

JJ Siew, Y Chern, KH Khoo, T Angata - Molecular Aspects of Medicine, 2023 - Elsevier
Microglia are resident myeloid cells in the central nervous system (CNS) with a unique
developmental origin, playing essential roles in developing and maintaining the CNS …

A proteogenomic signature of age-related macular degeneration in blood

V Emilsson, EF Gudmundsson, T Jonmundsson… - Nature …, 2022 - nature.com
Age-related macular degeneration (AMD) is one of the most common causes of visual
impairment in the elderly, with a complex and still poorly understood etiology. Whole …

SVEP1 is an endogenous ligand for the orphan receptor PEAR1

JS Elenbaas, U Pudupakkam, KJ Ashworth… - Nature …, 2023 - nature.com
Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1) is an
extracellular matrix protein that causally promotes vascular disease and associates with …

Impairment of kidney function and kidney cancer: A bidirectional Mendelian randomization study

Y Lin, Y Yang, T Fu, L Lin, X Zhang, Q Guo… - Cancer …, 2023 - Wiley Online Library
Background Many observational epidemiology studies discovered that kidney cancer and
impaired kidney function have a bidirectional relationship. However, it remains unclear …

Proteomic prediction of incident heart failure and its main subtypes

V Emilsson, BG Jonsson, TR Austin… - European journal of …, 2024 - Wiley Online Library
Aim To examine the ability of serum proteins in predicting future heart failure (HF) events,
including HF with reduced or preserved ejection fraction (HFrEF or HFpEF), in relation to …

Evaluating the causal effect of circulating proteome on the risk of osteoarthritis-related traits

Y Zhang, J Xie, S Wen, P Cao, W Xiao, J Zhu… - Annals of the …, 2023 - ard.bmj.com
Objectives This study aims to identify circulating proteins that are causally associated with
osteoarthritis (OA)-related traits through Mendelian randomisation (MR)-based analytical …

Proteomic analysis of effects of spironolactone in heart failure with preserved ejection fraction

A Javaheri, A Diab, L Zhao, C Qian… - Circulation: Heart …, 2022 - Am Heart Assoc
Background: The TOPCAT trial (Treatment of Preserved Cardiac Function Heart Failure With
an Aldosterone Antagonist Trial) suggested clinical benefits of spironolactone treatment …

Proteomic analysis of diabetes genetic risk scores identifies complement C2 and neuropilin-2 as predictors of type 2 diabetes: the Atherosclerosis Risk in …

BT Steffen, W Tang, PL Lutsey, RT Demmer, E Selvin… - Diabetologia, 2023 - Springer
Aims/hypothesis Genetic predisposition to type 2 diabetes is well-established, and genetic
risk scores (GRS) have been developed that capture heritable liabilities for type 2 diabetes …