Genetic predisposition to mosaic Y chromosome loss in blood.

ABSTRACT: Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism^1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesi

SUBMITTER: Thompson DJ 

PROVIDER: S-EPMC6887549 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature