The allelic landscape of human blood cell trait variation and links to common complex disease

WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

Sequence variants in three loci influence monocyte counts and erythrocyte volume

MAR Ferreira, JJ Hottenga, NM Warrington… - The American Journal of …, 2009 - cell.com
Blood cells participate in vital physiological processes, and their numbers are tightly
regulated so that homeostasis is maintained. Disruption of key regulatory mechanisms …

Multiple loci are associated with white blood cell phenotypes

MA Nalls, DJ Couper, T Tanaka, FJA van Rooij… - PLoS …, 2011 - journals.plos.org
White blood cell (WBC) count is a common clinical measure from complete blood count
assays, and it varies widely among healthy individuals. Total WBC count and its constituent …

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans

KS Lo, JG Wilson, LA Lange, AR Folsom, G Galarneau… - Human genetics, 2011 - Springer
Red blood cell, white blood cell, and platelet measures, including their count, sub-type and
volume, are important diagnostic and prognostic clinical parameters for several human …

[HTML][HTML] Systematic functional dissection of common genetic variation affecting red blood cell traits

JC Ulirsch, SK Nandakumar, L Wang, FC Giani… - Cell, 2016 - cell.com
Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …

Seventy-five genetic loci influencing the human red blood cell

P Van Der Harst, W Zhang, I Mateo Leach, A Rendon… - Nature, 2012 - nature.com
Anaemia is a chief determinant of global ill health, contributing to cognitive impairment,
growth retardation and impaired physical capacity. To understand further the genetic factors …

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

N Soranzo, TD Spector, M Mangino, B Kühnel… - Nature …, 2009 - nature.com
The number and volume of cells in the blood affect a wide range of disorders including
cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here …

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

SK Ganesh, NA Zakai, FJA Van Rooij, N Soranzo… - Nature …, 2009 - nature.com
Measurements of erythrocytes within the blood are important clinical traits and can indicate
various hematological disorders. We report here genome-wide association studies (GWAS) …

[HTML][HTML] Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

Y Hu, AM Stilp, CP McHugh, S Rao, D Jain… - The American Journal of …, 2021 - cell.com
Summary Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …