New study uncovers 17 genes driving clonal hematopoiesis and links to aging and disease

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New study uncovers 17 genes driving clonal hematopoiesis and links to aging and disease
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Researchers identified 17 new genes positively selected for clonal hematopoiesis in a large U.K. Biobank cohort, revealing their impact on aging and disease risks.

By Dr. Chinta SidharthanMay 15 2024Reviewed by Susha Cheriyedath, M.Sc. In a recent study published in the journal Nature Genetics , a team of researchers from the United Kingdom and the United States analyzed whole blood samples from a large cohort of U.K. Biobank participants to discover 17 genes that are being positively selected at the population level and driving clonal hematopoiesis.

Genomic sequencing studies on blood samples have identified that the occurrence of clonal hematopoiesis is higher among elderly individuals. Furthermore, retrospective studies among large cohorts have also identified an association between clonal hematopoiesis and cardiovascular disease, hematological cancers, and mortality.

The participants from the U.K. Biobank included in this study were between 40 and 70 years old. A method of somatic variant calling was used to filter out the germline variants and artifacts from the whole blood exomes. Subsequently, the non-synonymous to synonymous mutations ratio was used to identify specific mutations and genes under negative, positive, and neutral selection.

Results The study identified 17 additional genes involved in clonal hematopoiesis that were positively selected at the population level. The 17 newly identified clonal hematopoiesis genes were ZNF318, ZNF234, ZBTB33, YLPM1, SRFS1, SRCAP, SPRED2, SIK3, SH2B3, MYD88, MTA2, MAGEC3, IGLL5, CHEK2, CCL22, CCDC115, and BAX.

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