Clonal haematopoiesis and dysregulation of the immune system
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …
association study (GWAS) results included the X chromosome. Multiple recommendations …
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus
Objective Systemic lupus erythematosus (SLE), an autoimmune disorder, has been
associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain …
associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain …
Chromosomal alterations among age-related haematopoietic clones in Japan
The extent to which the biology of oncogenesis and ageing are shaped by factors that
distinguish human populations is unknown. Haematopoietic clones with acquired mutations …
distinguish human populations is unknown. Haematopoietic clones with acquired mutations …
Germline risk of clonal haematopoiesis
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …
somatic mutations that is associated with an increased risk of haematological malignancies …
Insights from complex trait fine-mapping across diverse populations
Despite the great success of genome-wide association studies (GWAS) in identifying genetic
loci significantly associated with diseases, the vast majority of causal variants underlying …
loci significantly associated with diseases, the vast majority of causal variants underlying …
Mosaic loss of human Y chromosome: what, how and why
Y chromosome (ChrY), the male-specific sex chromosome, has been considered as a
genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has been known for more than …
genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has been known for more than …
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
JP Dumanski, J Halvardson, H Davies… - Cellular and Molecular …, 2021 - Springer
Epidemiological investigations show that mosaic loss of chromosome Y (LOY) in leukocytes
is associated with earlier mortality and morbidity from many diseases in men. LOY is the …
is associated with earlier mortality and morbidity from many diseases in men. LOY is the …
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
Mosaic loss of chromosome Y (LOY) in leukocytes is the most common form of clonal
mosaicism, caused by dysregulation in cell-cycle and DNA damage response pathways …
mosaicism, caused by dysregulation in cell-cycle and DNA damage response pathways …