Opin vísindi

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

Show simple item record

dc.contributor Landspitali - The National University Hospital of Iceland
dc.contributor.author Stacey, Simon N.
dc.contributor.author Zink, Florian
dc.contributor.author Halldórsson, Gísli Hreinn
dc.contributor.author Stefánsdóttir, Lilja
dc.contributor.author Guðjónsson, Sigurjón Axel
dc.contributor.author Einarsson, Gudmundur
dc.contributor.author Hjörleifsson, Grimur
dc.contributor.author Eiríksdóttir, Þjóðbjörg
dc.contributor.author Helgadottir, Anna
dc.contributor.author Björnsdottir, Gyda
dc.contributor.author Thorgeirsson, Thorgeir E.
dc.contributor.author Ólafsdóttir, Þórunn Ásta
dc.contributor.author Jónsdóttir, Ingileif
dc.contributor.author Gretarsdottir, Solveig
dc.contributor.author Tragante, Vinicius
dc.contributor.author Magnússon, Magnús Karl
dc.contributor.author Jonsson, Hakon
dc.contributor.author Gudmundsson, Julius
dc.contributor.author Olafsson, Sigurgeir
dc.contributor.author Holm, Hilma
dc.contributor.author Gudbjartsson, Daniel F.
dc.contributor.author Sulem, Patrick
dc.contributor.author Helgason, Agnar Sturla
dc.contributor.author Þorsteinsdóttir, Unnur
dc.contributor.author Tryggvadottir, Laufey
dc.contributor.author Rafnar, Thorunn
dc.contributor.author Melsted, Páll
dc.contributor.author Úlfarsson, Magnús Örn
dc.contributor.author Viðarsson, Brynjar
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author Stefánsson, Kári
dc.date.accessioned 2023-11-17T01:05:05Z
dc.date.available 2023-11-17T01:05:05Z
dc.date.issued 2023-11-06
dc.identifier.citation Stacey , S N , Zink , F , Halldórsson , G H , Stefánsdóttir , L , Guðjónsson , S A , Einarsson , G , Hjörleifsson , G , Eiríksdóttir , Þ , Helgadottir , A , Björnsdottir , G , Thorgeirsson , T E , Ólafsdóttir , Þ Á , Jónsdóttir , I , Gretarsdottir , S , Tragante , V , Magnússon , M K , Jonsson , H , Gudmundsson , J , Olafsson , S , Holm , H , Gudbjartsson , D F , Sulem , P , Helgason , A S , Þorsteinsdóttir , U , Tryggvadottir , L , Rafnar , T , Melsted , P , Úlfarsson , M Ö , Viðarsson , B , Thorleifsson , G & Stefánsson , K 2023 , ' Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis ' , Nature Genetics . https://doi.org/10.1038/s41588-023-01555-z
dc.identifier.issn 1061-4036
dc.identifier.other 212173543
dc.identifier.other c65bb732-b036-4b90-9c21-eb975cb3e579
dc.identifier.other 85175838978
dc.identifier.uri https://hdl.handle.net/20.500.11815/4551
dc.description Publisher Copyright: © 2023, The Author(s).
dc.description.abstract 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 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational barcode method, we identified 16,306 people with CH. Prevalence approaches 50% in elderly participants. Smoking demonstrates a dosage-dependent impact on risk of CH. CH associates with several smoking-related diseases. Contrary to published claims, we find no evidence that CH is associated with cardiovascular disease. We provide evidence that CH is driven by genes that are commonly mutated in myeloid neoplasia and implicate several new driver genes. The presence and nature of a driver mutation alters the risk profile for hematological disorders. Nevertheless, most CH cases have no known driver mutations. A CH genome-wide association study identified 25 loci, including 19 not implicated previously in CH. Splicing, protein and expression quantitative trait loci were identified for CD164 and TCL1A.
dc.format.extent 6386185
dc.language.iso en
dc.relation.ispartofseries Nature Genetics; ()
dc.rights info:eu-repo/semantics/openAccess
dc.subject Náttúrufræðingar
dc.subject Blóðlæknisfræði
dc.subject Genetics
dc.title Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.doi 10.1038/s41588-023-01555-z
dc.relation.url http://www.scopus.com/inward/record.url?scp=85175838978&partnerID=8YFLogxK
dc.contributor.department Faculty of Industrial Engineering, Mechanical Engineering and Computer Science
dc.contributor.department Faculty of Medicine
dc.contributor.department Faculty of Sociology, Anthropology and Folkloristics
dc.contributor.department Faculty of Electrical and Computer Engineering
dc.contributor.school Health Sciences

Files in this item

This item appears in the following Collection(s)

Show simple item record