Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome.

ABSTRACT:

Abstract

Myeloid leukemia of Down syndrome (DS) is preceded by a transient neonatal preleukemia driven by somatic mutations in the chromosome X gene GATA1, resulting in a shorter protein isoform (GATA1s). GATA1s mutations occur at high frequency in DS, but beyond trisomy 21, risk factors for this preleukemia are unknown. We investigated whether germline genetic variation influences development of GATA1s mutations in DS. Whole-genome sequencing was performed on 434 children with DS from the Oxford DS Cohort Study previously screened for GATA1s mutations. After quality control, association tests were conducted separately for disomic autosomes, trisomic chromosome 21, and chromosome X. Regression tests were performed for mutation variant allele frequency or the binary trait (103 GATA1

SUBMITTER: Li Y 

PROVIDER: S-EPMC12391799 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature