New CHIP-associated genomic variants identified
Association profiles of phenomena by CHIP subtype. Profiles are shown for each CHIP gene subtype reflecting the phenome-wide association results. The YThe axis (concentric circles) represents the proportion of phenotypes within a trait category that were nominally associated (P ≤ 0.05) with CHIP gene carrier status. A CHIP gene had to have at least one disease category with an associated phenotype ratio ≥ 0.2 to be included in the figure. As expected, hematological traits show the highest proportion of associations of phenotypic traits overall. The largest number of cancer associations are seen by DNMT3A CHIP, while JAK2 CHIP shows the highest proportion of cardiovascular associations. The respiratory associations are more pronounced for ASXL1 CHIP. SUZ12 CHIP shows a unique profile among CHIP subtypes, with a higher proportion of ophthalmologic and endocrine associations. Association models were run with age, age2, sex, and age × sex, and ten ancestry-informative principal components as covariates. Credit: Nature(2022). DOI: 10.1038/s41586-022-05448-9
A team of researchers from Regeneron Pharmaceuticals has identified novel genomic variants associated with clonal hematopoiesis of undetermined potential (CHIP).
In his article published in the magazine Nature the group describes how they used whole-exome and whole-genome association analyzes to study differences in the blood of some people with somatic mutations. Nature he has also published a Research Highlights article in the same issue of the magazine, in which he discusses the work done by the New York team.
Hematopoiesis is a process that results in the formation of cellular components of blood. And clonal hematopoiesis is the part of the process that is involved in the development of cell lineages. The importance of the overall process is highlighted by the fact that each person produces approximately 300 billion new blood cells each day of their life.
Previous research has suggested that clonal hematopoiesis-associated variants of indeterminate potential exist in certain individuals, each of which may have a unique impact. In this new effort, the Regeneron team sought to find some of them by studying information contained in very large data sets, such as the UK Biobank and the Geisinger MyCode Community Health Initiative.
To find the variants they were looking for, the researchers focused their search efforts on 23 genes that have already been associated with CHIP. By searching the data of 628,388 people, they were able to identify 40,208 carriers of at least one variant associated with CHIP. They then performed whole-exome and genome studies of the carriers they had identified. By doing so, they were able to identify 24 loci, 21 of which had not been seen before.
The researchers also found that they were able to identify some variants that might be associated with clonal hematopoiesis and telomere length in certain individuals.
In another part of their study, the team looked at the health traits of people listed in the UK Biobank looking for associations between people who had CHIP variants and other problems. In doing so, they found associations between people who had clonal hematopoiesis variants and diseases such as COVID-19, Heart problems, obesity and problems to eliminate infections of various types. They also found associations between individuals with CHIP and the development of cancerous tumors and myeloid leukemias.
Michael D. Kessler et al, Associations of common and rare variants with clonal hematopoiesis phenotypes, Nature (2022). DOI: 10.1038/s41586-022-05448-9
Kirsty Minton, researching the genetic etiology of clonal hematopoiesis, Nature Reviews Genetics(2022). DOI: 10.1038/s41576-022-00565-7
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