rs11082436 - SLC14A2

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome - Unknown journal (n.d.) · Unknown authors · PubMed 40249915

  ABSTRACT: Key Points Genome-wide association studies of somatic GATA1s mutations did not identify strong genetic risk factors for transient leukemia in DS. South Asian genetic ancestry was positively associated with risk of developing GATA1s mutations in newborns with DS. Visual 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

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