A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

P Akbari, D Vuckovic, L Stefanucci, T Jiang… - Nature …, 2023 - nature.com
Blood cells contain functionally important intracellular structures, such as granules, critical to
immunity and thrombosis. Quantitative variation in these structures has not been subjected …

Association of inflammatory markers with cerebral small vessel disease in community-based population

L Jiang, X Cai, D Yao, J Jing, L Mei, Y Yang… - Journal of …, 2022 - Springer
Background This study investigated the relationships of neutrophil count (NC), neutrophil-to-
lymphocyte ratio (NLR) and systemic immune-inflammation index (SII) with cerebral small …

Genetic estimates of correlation and causality between blood-based biomarkers and psychiatric disorders

WR Reay, DJ Kiltschewskij, MP Geaghan, JR Atkins… - Science …, 2022 - science.org
There is a long-standing interest in exploring the relationship between blood-based
biomarkers and psychiatric disorders, despite their causal role being difficult to resolve in …

The genetics of human performance

DS Kim, MT Wheeler, EA Ashley - Nature Reviews Genetics, 2022 - nature.com
Human physiology is likely to have been selected for endurance physical activity. However,
modern humans have become largely sedentary, with physical activity becoming a leisure …

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation

S Rao, Y Yao, DE Bauer - Genome Medicine, 2021 - Springer
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants
that influence risk for human diseases and traits. Yet understanding the mechanisms by …

Molecular and cellular mechanisms that regulate human erythropoiesis

AL Caulier, VG Sankaran - Blood, The Journal of the American …, 2022 - ashpublications.org
To enable effective oxygen transport,∼ 200 billion red blood cells (RBCs) need to be
produced every day in the bone marrow through the fine-tuned process of erythropoiesis …

Variant to function mapping at single-cell resolution through network propagation

F Yu, LD Cato, C Weng, LA Liggett, S Jeon, K Xu… - Nature …, 2022 - nature.com
Genome-wide association studies in combination with single-cell genomic atlases can
provide insights into the mechanisms of disease-causal genetic variation. However …

Functions of macrophage colony-stimulating factor (CSF1) in development, homeostasis, and tissue repair

A Sehgal, KM Irvine, DA Hume - Seminars in immunology, 2021 - Elsevier
Macrophage colony-stimulating factor (CSF1) is the primary growth factor required for the
control of monocyte and macrophage differentiation, survival, proliferation and renewal …

GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

M Chong, P Mohammadi-Shemirani, N Perrot… - Elife, 2022 - elifesciences.org
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and
highlights a potential causal role in dementia Page 1 Chong et al. eLife 2022;11:e70382 …

Cross-disorder genetic analysis of immune diseases reveals distinct gene associations that converge on common pathways

P Demela, N Pirastu, B Soskic - Nature Communications, 2023 - nature.com
Genome-wide association studies (GWAS) have mapped thousands of susceptibility loci
associated with immune-mediated diseases. To assess the extent of the genetic sharing …