rs116814552 - BTC - HSPE1P23

Magnitude 4.5 · 1 study on file

Reported associations

• Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis - Unknown journal (n.d.) · Unknown authors · PubMed 37932435

  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 hematol

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