Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
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 …

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

SM Zekavat, SH Lin, AG Bick, A Liu, K Paruchuri… - Nature medicine, 2021 - nature.com
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …

Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations

X Dai, X Guo - Ageing Research Reviews, 2021 - Elsevier
One of the most curious findings emerged from genome-wide studies over the last decade
was that genetic mosaicism is a dominant feature of human ageing genomes. The clonal …

[PDF][PDF] Interrogation of cancer gene dependencies reveals paralog interactions of autosome and sex chromosome-encoded genes

A Köferle, A Schlattl, A Hörmann, V Thatikonda, A Popa… - Cell reports, 2022 - cell.com
Genetic networks are characterized by extensive buffering. During tumor evolution,
disruption of functional redundancies can create de novo vulnerabilities that are specific to …

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 …

Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

J Mattisson, M Danielsson, M Hammond, H Davies… - Scientific Reports, 2021 - nature.com
Mosaic loss of chromosome Y (LOY) in immune cells is a male-specific mutation associated
with increased risk for morbidity and mortality. The CD99 gene, positioned in the …

Shared and distinct genetic etiologies for different types of clonal hematopoiesis

DW Brown, LD Cato, Y Zhao, SK Nandakumar… - Nature …, 2023 - nature.com
Abstract Clonal hematopoiesis (CH)—age-related expansion of mutated hematopoietic
clones—can differ in frequency and cellular fitness by CH type (eg, mutations in driver genes …

LDtrait: an online tool for identifying published phenotype associations in linkage disequilibrium

SH Lin, DW Brown, MJ Machiela - Cancer research, 2020 - AACR
Genome-wide association studies (GWAS) have identified thousands of germline
susceptibility loci associated with risk for cancer as well as a wide range of other traits and …

Glyphosate use and mosaic loss of chromosome Y among male farmers in the Agricultural Health Study

VC Chang, W Zhou, SI Berndt, G Andreotti… - Environmental …, 2023 - ehp.niehs.nih.gov
Background: Glyphosate is the most commonly used herbicide worldwide and has been
implicated in the development of certain hematologic cancers. Although mechanistic studies …

Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

B Bruhn-Olszewska, H Davies, D Sarkisyan, U Juhas… - Genome Medicine, 2022 - Springer
Background The COVID-19 pandemic, which has a prominent social and economic impact
worldwide, shows a largely unexplained male bias for the severity and mortality of the …