Clonal hematopoiesis in human aging and disease

S Jaiswal, BL Ebert - Science, 2019 - science.org
BACKGROUND Somatic mutations accumulate in normal tissues as a function of time. The
great majority of these mutations have no effect on fitness, so selection does not act upon …

Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease

CS Marnell, A Bick, P Natarajan - Journal of molecular and cellular …, 2021 - Elsevier
Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally
expanded hematopoietic stem cell caused by a leukemogenic mutation in individuals …

Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams, J Lee, E Mitchell, L Moore, EJ Baxter… - Nature, 2022 - nature.com
Mutations in cancer-associated genes drive tumour outgrowth, but our knowledge of the
timing of driver mutations and subsequent clonal dynamics is limited,–. Here, using whole …

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …

The longitudinal dynamics and natural history of clonal haematopoiesis

MA Fabre, JG de Almeida, E Fiorillo, E Mitchell… - Nature, 2022 - nature.com
Clonal expansions driven by somatic mutations become pervasive across human tissues
with age, including in the haematopoietic system, where the phenomenon is termed clonal …

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

AG Bick, JS Weinstock, SK Nandakumar, CP Fulco… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

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 …

Genetic associations of protein-coding variants in human disease

BB Sun, MI Kurki, CN Foley, A Mechakra, CY Chen… - Nature, 2022 - nature.com
Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …

Clonal haematopoiesis: connecting ageing and inflammation in cardiovascular disease

S Jaiswal, P Libby - Nature Reviews Cardiology, 2020 - nature.com
Ageing and inflammation strongly drive the risk of cardiovascular disease. Work over the
past decade has uncovered a common condition characterized by the positive selection of …

Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms

W Vainchenker, R Kralovics - … Journal of the American Society of …, 2017 - ashpublications.org
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part
elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin …