Mosaic loss of Y chromosome in monocytes is associated with lower survival after transcatheter aortic valve replacement.

ABSTRACT:

Aims

Mosaic loss of Y chromosome (LOY) in blood cells is the most common acquired mutation, increases with age, and is related to cardiovascular disease. Loss of Y chromosome induces cardiac fibrosis in murine experiments mimicking the consequences of aortic valve stenosis, the prototypical age-related disease. Cardiac fibrosis is the major determinant of mortality even after transcatheter aortic valve replacement (TAVR). It was hypothesized that LOY affects long-term outcome in men undergoing TAVR.

Methods and results

Using digital PCR in DNA of peripheral blood cells, LOY (Y/X ratio) was assessed by targeting a 6 bp sequence difference between AMELX and AMELY genes using TaqMan. The genetic signature of monocytes lacking the Y chromosome was deciphered by scRNAseq. In 362

SUBMITTER: Mas-Peiro S 

PROVIDER: S-EPMC10232276 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature