Human immune diversity: from evolution to modernity

A Liston, S Humblet-Baron, D Duffy, A Goris - Nature immunology, 2021 - nature.com
The extreme diversity of the human immune system, forged and maintained throughout
evolutionary history, provides a potent defense against opportunistic pathogens. At the same …

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 …

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

AR Barton, MA Sherman, RE Mukamel, PR Loh - Nature genetics, 2021 - nature.com
Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

N Sinnott-Armstrong, S Naqvi, M Rivas, JK Pritchard - Elife, 2021 - elifesciences.org
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …

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 …

Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates

M Mousa, H Vurivi, H Kannout, M Uddin, N Alkaabi… - …, 2021 - thelancet.com
Background The heterogeneity in symptomatology and phenotypic profile attributable to
COVID-19 is widely unknown. The objective of this manuscript is to conduct a trans-ancestry …

Lower lymphocyte count is associated with increased risk of Parkinson's disease

MP Jensen, BM Jacobs, R Dobson… - Annals of …, 2021 - Wiley Online Library
Objectives Patients with established Parkinson's disease (PD) display differences in
peripheral blood markers of immune function, including leukocyte differential counts …

White blood cells and severe COVID-19: a Mendelian randomization study

Y Sun, J Zhou, K Ye - Journal of personalized medicine, 2021 - mdpi.com
Increasing evidence shows that white blood cells are associated with the risk of coronavirus
disease 2019 (COVID-19), but the direction and causality of this association are not clear. To …

[PDF][PDF] Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia

L Kachuri, S Jeon, AT DeWan, C Metayer, X Ma… - The American Journal of …, 2021 - cell.com
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Despite overlap
between genetic risk loci for ALL and hematologic traits, the etiological relevance of …