medRxiv

Blood-cell chromosome changes linked to disease and death

Carriers had a higher relative rate of death than noncarriers, with a hazard ratio of 1.21 over a median 14.34 years.

Preprint: cohort study of 452,594 UK Biobank participants, against noncarriers of blood-cell chromosome changesMechanisms

Limit: The human results cover UK Biobank participants only

Edited by Boris Djordjevic · AgingResearch.News

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An observational cohort study followed 452,594 UK Biobank participants, whose median age at blood testing was 58; 56.3% were female. Researchers examined mosaic chromosomal alterations—large chromosome changes present in some blood cells. They tracked disease diagnoses and deaths over a median 14.34 years.

The chromosome changes were linked to developing multiple diseases and to higher mortality. These associations persisted after excluding people with a separate form of blood-cell DNA change involving mutations in specific genes. People with both forms had a higher relative rate of death than people with neither, with a hazard ratio of 1.87. The authors also mapped chromosome regions associated with disease to identify candidate genes that might help account for the links.

Why it matters

Screening for age-related blood-cell DNA changes may need to consider chromosome alterations alongside gene mutations when assessing disease risk, the authors suggest.

Caveats

The human findings were observational and cannot establish that the chromosome changes caused disease or death. The results came from UK Biobank participants, and the preprint has not been peer-reviewed.