Summary statistics are available for download from the GWAS Catalog.
Publications
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, et al.
Nature. 2022 Dec;612(7939):301-309. doi: 10.1038/s41586-022-05448-9. Epub 2022 Nov 30.
PMID: 36450978
Phenotypes
- Clonal haematopoiesis of indeterminate potential (with or without mosaic chromosomal alteration)
- Clonal haematopoiesis of indeterminate potential (without mosaic chromosomal alteration)
- Clonal haematopoiesis of indeterminate potential (ASXL1 mutation)
- Clonal haematopoiesis of indeterminate potential (DNMT3A mutation)
- Clonal haematopoiesis of indeterminate potential (JAK2 mutation)
- Clonal haematopoiesis of indeterminate potential (SF3B1 mutation)
- Clonal haematopoiesis of indeterminate potential (SRSF2 mutation)
- Clonal haematopoiesis of indeterminate potential (TET2 mutation)
- Clonal haematopoiesis of indeterminate potential (TP53 mutation)
- Mosaic chromosomal alteration of the autosomes
- Mosaic chromosomal alteration of the X chromosome
- Mosaic chromosomal alteration of the Y chromosome
- Telomere length
Experiment summary
This study analyzed genetic associations for predisposition to clonal haematopoiesis of indeterminate potential (CHIP) and related phenotypes in 418,401 individuals of European ancestry.